VCV000010487.42 - ClinVar

NM_000202.8(IDS):c.998C>T (p.Ser333Leu)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(12)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000202.8(IDS):c.998C>T (p.Ser333Leu)

Variation ID: 10487 Accession: VCV000010487.42

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: Xq28 X: 149490322 (GRCh38) [ NCBI UCSC ] X: 148571853 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Feb 20, 2014	Aug 4, 2024	Jun 7, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000202.8:c.998C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000193.1:p.Ser333Leu	missense
NM_000202.4:c.998C>T
NM_001166550.4:c.728C>T	NP_001160022.1:p.Ser243Leu	missense
NM_006123.5:c.998C>T	NP_006114.1:p.Ser333Leu	missense
NR_104128.2:n.1297C>T		non-coding transcript variant
NC_000023.11:g.149490322G>A
NC_000023.10:g.148571853G>A
NG_011900.3:g.20013C>T
NG_042264.1:g.3677G>A
	P22304:p.Ser333Leu

... more HGVS ... less HGVS

Protein change

S333L, S243L

Other names

Canonical SPDI

NC_000023.11:149490321:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

variation affecting protein; Variation Ontology [ VariO:0002]

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA340987 UniProtKB: P22304#VAR_007360 OMIM: 300823.0002 dbSNP: rs104894853 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
IDS		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	664	1581
LOC106050102	-	-	-	GRCh38	-	749

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Mucopolysaccharidosis, MPS-II	Pathogenic (10)	criteria provided, multiple submitters, no conflicts	Jun 7, 2024	RCV000011233.32
not provided	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Oct 5, 2022	RCV000790725.14

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Mucopolysaccharidosis, MPS-II (X-linked recessive inheritance) Affected status: yes Allele origin: germline	Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences Accession: SCV001480194.1 First in ClinVar: Feb 20, 2021 Last updated: Feb 20, 2021	Number of individuals with the variant: 4 Clinical Features: Motor delay (present) , Coarse facial features (present) , Depressed nasal bridge (present) , Short stature (present) , Macrocephaly (present) , Sleep apnea (present) , … (more) Motor delay (present) , Coarse facial features (present) , Depressed nasal bridge (present) , Short stature (present) , Macrocephaly (present) , Sleep apnea (present) , Abnormal heart valve morphology (present) , Cardiomyopathy (present) , Umbilical hernia (present) , Hepatosplenomegaly (present) , Dysostosis multiplex (present) , Flexion contracture (present) , Hearing impairment (present) (less) Age: 3-11 years Sex: male Ethnicity/Population group: Indian
Pathogenic (Oct 05, 2022)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV002578620.2 First in ClinVar: Oct 15, 2022 Last updated: Mar 04, 2023	Comment: Published functional studies with S333L transfected into CHO, HEK293T, and COS-7 cells indicate a severe impairment of protein function (Sukegawa-Hayasaka et al., 2006; Vollebregt et … (more) Published functional studies with S333L transfected into CHO, HEK293T, and COS-7 cells indicate a severe impairment of protein function (Sukegawa-Hayasaka et al., 2006; Vollebregt et al., 2017; Lin et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16495038, 9921913, 9660053, 27246110, 1639384, 27695081, 30548430, 30639582, 9950361, 27896113, 27883178, 8830188, 28543354, 9875019, 21291454, 21829674, 33676511, 31877959, 34258227, 35144014, 17091340, 24125893) (less)
Pathogenic (Dec 29, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Mucopolysaccharidosis, MPS-II Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001207067.5 First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024	Publications: PubMed (4) PubMed: 1639384‚ 28543354‚ 30639582‚ 17091340 Comment: This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 333 of the IDS protein (p.Ser333Leu). … (more) This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 333 of the IDS protein (p.Ser333Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mucopolysaccharidosis type II (MPS II) (PMID: 1639384, 28543354, 30639582; Invitae). ClinVar contains an entry for this variant (Variation ID: 10487). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IDS protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects IDS function (PMID: 17091340, 28543354). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Mucopolysaccharidosis, MPS-II (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Neuberg Centre For Genomic Medicine, NCGM Accession: SCV005042552.1 First in ClinVar: May 12, 2024 Last updated: May 12, 2024	Comment: The missense variant c.998C>Tp.Ser333Leu in IDS gene has been reported previously in hemizygous state in most of the individuals with mucopolysaccharidosis type II. Experimental studies … (more) The missense variant c.998C>Tp.Ser333Leu in IDS gene has been reported previously in hemizygous state in most of the individuals with mucopolysaccharidosis type II. Experimental studies have shown that this missense change affects IDS function Sukegawa-Hayasaka K, et al., 2006, Vollebregt AAM, et al., 2017. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic multiple submissions.The amino acid Serine at position 333 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Ser333Leu in IDS is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic. (less) Clinical Features: Abnormal metabolism (present)
Pathogenic (Apr 16, 2010)	criteria provided, single submitter (ACMG Guidelines, 2007) Method: research	Mucopolysaccharidosis, MPS-II (X-linked inheritance) Affected status: yes Allele origin: maternal	IIFP, CONICET-UNLP Accession: SCV000262529.1 First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015	Publications: DOI: 10.1016/j.ymgmr.2014.08.006 DOI: 10.1016/j.ymgmr.2014.08.006 Number of individuals with the variant: 2 Sex: male Geographic origin: Argentina
Pathogenic (Aug 29, 2013)	criteria provided, single submitter (EGL Classification Definitions) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Eurofins Ntd Llc (ga) Accession: SCV000232028.5 First in ClinVar: Jun 28, 2015 Last updated: Jul 30, 2019	Other databases http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IDS Number of individuals with the variant: 4 Sex: mixed
Pathogenic (Sep 05, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Mucopolysaccharidosis, MPS-II Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV002014474.1 First in ClinVar: Nov 13, 2021 Last updated: Nov 13, 2021
Pathogenic (Jun 07, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: literature only	Mucopolysaccharidosis, MPS-II Affected status: yes Allele origin: germline	Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova Accession: SCV005089333.1 First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024 Comment: Classification method: ACMG Guidelines [PMID:25741868] with modifications	Publications: PubMed (32) PubMed: 35144014‚ 27351199‚ 27896113‚ 24125893‚ 27883178‚ 1639384‚ 9660053‚ 35005816‚ 8111411‚ 9501270‚ 7887413‚ 33960103‚ 9921913‚ 27246110‚ 8830188‚ 9950361‚ 31877959‚ 16495038‚ 8566953‚ 14728992‚ 15500445‚ 8940265‚ 33676511‚ 21291454‚ 7581397‚ 9875019‚ 28543354‚ 34258227‚ 21829674‚ 30639582‚ 36713083‚ 36945845 Comment: In vitro or in vivo functional studies supportive of a damaging effect (PS3_Strong), Prevalence of the variant significantly increased in affected individuals compared with controls … (more) In vitro or in vivo functional studies supportive of a damaging effect (PS3_Strong), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Strong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate) (less) Number of individuals with the variant: 64 Sex: male
Pathogenic (Jul 01, 1992)	no assertion criteria provided Method: literature only	MUCOPOLYSACCHARIDOSIS, TYPE II Affected status: not provided Allele origin: germline	OMIM Accession: SCV000031460.2 First in ClinVar: Apr 04, 2013 Last updated: Feb 20, 2014	Publications: PubMed (1) PubMed: 1639384 Comment on evidence: In their patient 4 with Hunter syndrome (309900), Flomen et al. (1992) identified a C-to-T transition at nucleotide 1122 in the IDS gene, resulting in … (more) In their patient 4 with Hunter syndrome (309900), Flomen et al. (1992) identified a C-to-T transition at nucleotide 1122 in the IDS gene, resulting in substitution of leucine for serine-333, which is a conserved residue within a region of homology among sulfatases. This mutation creates a novel splice site that is preferentially used and results in partial loss of 1 exon in the RNA. (less)
Pathogenic (-)	no assertion criteria provided Method: provider interpretation	Mucopolysaccharidosis, MPS-II (X-linked inheritance) Affected status: yes Allele origin: maternal	Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University Accession: SCV002575080.1 First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023	Sex: male Testing laboratory: Beijing Chigene Translational Medicine Research Center (Beijing, China)
Affects (Apr 07, 2014)	no assertion criteria provided Method: research	Mucopolysaccharidosis, MPS-II (X-linked recessive inheritance) Affected status: yes Allele origin: germline	Pediatrics, All India Institute of Medical Sciences, New Delhi Accession: SCV001573787.1 First in ClinVar: May 10, 2021 Last updated: May 10, 2021	Comment: The change c.998C>T (p.S333L) was found to be a missense variant, where the hydroxyl-containing polar neutral amino acid Serine at 333 position was substituted by … (more) The change c.998C>T (p.S333L) was found to be a missense variant, where the hydroxyl-containing polar neutral amino acid Serine at 333 position was substituted by aliphatic nonpolar neutral amino acid Leucine. It was detected in a hemizygous state in one case with severe phenotype from Haryana, India. (less) Clinical Features: Coarse facial features (present) , Arthropathy (present) , Macrocephaly (present) , Hepatosplenomegaly (present) , Delayed gross motor development (present) , Developmental regression (present) Age: 0-9 years Sex: male Ethnicity/Population group: INDIAN Geographic origin: Haryana, India Comment on evidence: The change c.998C>T (p.S333L) was found to be a missense variant, where the hydroxyl-containing polar neutral amino acid Serine at 333 position was substituted by … (more) The change c.998C>T (p.S333L) was found to be a missense variant, where the hydroxyl-containing polar neutral amino acid Serine at 333 position was substituted by aliphatic nonpolar neutral amino acid Leucine. It was detected in a hemizygous state in one case with severe phenotype from Haryana, India. (less) Method: Sanger sequencing was performed on ABI 3130 genetic analyser (Applied Biosystem, USA) capillary electrophoresis. Data was analysed by ABI sequence analysis (SeqScape version 2.5) software as well as manually by using software: Chromaspro (Version-1.7.5, Technilysium Pvt. Ltd, Australia) and FinchTV (Version 1.4.0, Geospiza, Perkinelmer, USA).
not provided (-)	no classification provided Method: literature only	Mucopolysaccharidosis, MPS-II Affected status: unknown Allele origin: germline	GeneReviews Accession: SCV000999926.2 First in ClinVar: Dec 17, 2019 Last updated: Oct 01, 2022	Publications: PubMed (1) PubMed: 20301451 BookShelf: NBK1274 BookShelf: NBK1274
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Comment:

Published functional studies with S333L transfected into CHO, HEK293T, and COS-7 cells indicate a severe impairment of protein function (Sukegawa-Hayasaka et al., 2006; Vollebregt et al., 2017; Lin et al., 2019); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16495038, 9921913, 9660053, 27246110, 1639384, 27695081, 30548430, 30639582, 9950361, 27896113, 27883178, 8830188, 28543354, 9875019, 21291454, 21829674, 33676511, 31877959, 34258227, 35144014, 17091340, 24125893)

Comment:

This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 333 of the IDS protein (p.Ser333Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mucopolysaccharidosis type II (MPS II) (PMID: 1639384, 28543354, 30639582; Invitae). ClinVar contains an entry for this variant (Variation ID: 10487). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IDS protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects IDS function (PMID: 17091340, 28543354). For these reasons, this variant has been classified as Pathogenic.

Comment:

The missense variant c.998C>Tp.Ser333Leu in IDS gene has been reported previously in hemizygous state in most of the individuals with mucopolysaccharidosis type II. Experimental studies have shown that this missense change affects IDS function Sukegawa-Hayasaka K, et al., 2006, Vollebregt AAM, et al., 2017. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic multiple submissions.The amino acid Serine at position 333 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Ser333Leu in IDS is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic.

Comment:

In vitro or in vivo functional studies supportive of a damaging effect (PS3_Strong), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Strong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)

Comment:

The change c.998C>T (p.S333L) was found to be a missense variant, where the hydroxyl-containing polar neutral amino acid Serine at 333 position was substituted by aliphatic nonpolar neutral amino acid Leucine. It was detected in a hemizygous state in one case with severe phenotype from Haryana, India.

Germline Functional Evidence

Functional Help The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence	Method Help A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter.	Result Help A brief description of the result of this method for this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
variation affecting protein (VariO:0002)	Sanger sequencing was performed on ABI 3130 genetic analyser (Applied Biosystem, USA) capillary electrophoresis. Data was analysed by ABI sequence analysis (SeqScape version 2.5) software as well as manually by using software: Chromaspro (Version-1.7.5, Technilysium Pvt. Ltd, Australia) and FinchTV (Version 1.4.0, Geospiza, Perkinelmer, USA).	Result not provided	Pediatrics, All India Institute of Medical Sciences, New Delhi Accession: SCV001573787.1

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Mucopolysaccharidosis Type II.	Adam MP	-	2024	PMID: 20301451
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.	Zhong L	Clinical genetics	2023	PMID: 36945845
Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.	Zhang Z	Frontiers in genetics	2023	PMID: 36713083
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.	Agrawal N	European journal of medical genetics	2022	PMID: 35144014
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).	Ghaffari SR	Human mutation	2022	PMID: 35005816
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.	Zerjav Tansek M	Molecular genetics and metabolism reports	2021	PMID: 34258227
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.	Josahkian JA	American journal of medical genetics. Part C, Seminars in medical genetics	2021	PMID: 33960103
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).	Semyachkina AN	BMC medical genomics	2021	PMID: 33676511
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).	Lin HY	International journal of molecular sciences	2019	PMID: 31877959
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.	Zhang W	Clinica chimica acta; international journal of clinical chemistry	2019	PMID: 30639582
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.	Vollebregt AAM	Developmental medicine and child neurology	2017	PMID: 28543354
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.	Dvorakova L	Clinical genetics	2017	PMID: 27883178
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.	Alkhzouz C	JIMD reports	2017	PMID: 27351199
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.	Kosuga M	Molecular genetics and metabolism	2016	PMID: 27246110
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).	Amartino H	Molecular genetics and metabolism reports	2014	DOI: 10.1016/j.ymgmr.2014.08.006
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).	Amartino H	Molecular genetics and metabolism reports	2014	PMID: 27896113
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.	Brusius-Facchin AC	Molecular genetics and metabolism	2014	PMID: 24125893
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.	Sohn YB	Clinical genetics	2012	PMID: 21291454
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.	Zhang H	PloS one	2011	PMID: 21829674
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.	Sukegawa-Hayasaka K	Journal of inherited metabolic disease	2006	PMID: 17091340
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.	Lualdi S	Biochimica et biophysica acta	2006	PMID: 16495038
Analysis of normal and mutant iduronate-2-sulphatase conformation.	Parkinson-Lawrence E	The Biochemical journal	2005	PMID: 15500445
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.	Parkinson EJ	Molecular genetics and metabolism	2004	PMID: 14728992
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).	Li P	Journal of medical genetics	1999	PMID: 9950361
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.	Karsten S	Human genetics	1998	PMID: 9921913
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).	Vafiadaki E	Archives of disease in childhood	1998	PMID: 9875019
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.	Froissart R	Clinical genetics	1998	PMID: 9660053
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).	Isogai K	Journal of inherited metabolic disease	1998	PMID: 9501270
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.	Rathmann M	American journal of human genetics	1996	PMID: 8940265
Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.	Li P	Journal of inherited metabolic disease	1996	PMID: 8830188
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.	Olsen TC	Human genetics	1996	PMID: 8566953
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.	Jonsson JJ	American journal of human genetics	1995	PMID: 7887413
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.	Sukegawa K	Human mutation	1995	PMID: 7581397
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.	Hopwood JJ	Human mutation	1993	PMID: 8111411
Detection of point mutations and a gross deletion in six Hunter syndrome patients.	Flomen RH	Genomics	1992	PMID: 1639384
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IDS	-	-	-	-
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Text-mined citations for rs104894853 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_000202.8(IDS):c.998C>T (p.Ser333Leu)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs104894853 ...