VCV000050962.58 - ClinVar

NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)

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.

(18)

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/Likely 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_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)

Variation ID: 50962 Accession: VCV000050962.58

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 3p24.2 3: 25733931 (GRCh38) [ NCBI UCSC ] 3: 25775422 (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	Oct 11, 2015	Oct 20, 2024	Jan 21, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_018297.4:c.1201A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_060767.2:p.Arg401Ter	nonsense
NM_001145293.2:c.1147A>T	NP_001138765.1:p.Arg383Ter	nonsense
NM_001145294.2:c.1075A>T	NP_001138766.1:p.Arg359Ter	nonsense
NM_001145295.2:c.1201A>T	NP_001138767.1:p.Arg401Ter	nonsense
NC_000003.12:g.25733931T>A
NC_000003.11:g.25775422T>A
NG_034108.1:g.61109A>T

... more HGVS ... less HGVS

Protein change

R401*, R359*, R383*

Other names

Canonical SPDI

NC_000003.12:25733930:T:A

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

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.

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023

The Genome Aggregation Database (gnomAD) 0.00031

Trans-Omics for Precision Medicine (TOPMed) 0.00031

Links

ClinGen: CA143904 OMIM: 610661.0002 dbSNP: rs201337954 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.
NGLY1		-	-	GRCh38 GRCh37	814	846

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.
Congenital disorder of deglycosylation	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	Jan 21, 2024	RCV000043663.26
not provided	Pathogenic (7)	criteria provided, multiple submitters, no conflicts	Nov 21, 2022	RCV000309063.32
Congenital disorder of deglycosylation 1	Pathogenic/Likely pathogenic (5)	criteria provided, multiple submitters, no conflicts	Jul 17, 2023	RCV002477142.9

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 (Mar 04, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Congenital disorder of deglycosylation 1 Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV000894311.2 First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022	Publications: PubMed (1) PubMed: 25741868 pmc: 4544753 pmc: 4544753 DOI: 10.1038/gim.2015.30 DOI: 10.1038/gim.2015.30
Pathogenic (Nov 21, 2022)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000329581.6 First in ClinVar: Dec 06, 2016 Last updated: Jan 21, 2023	Comment: Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This … (more) Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26611529, 24651605, 32395402, 22581936, 26350515, 28750948, 27388694, 32071843, 32576142, 32422350, 33057211, 31965062, 31957011, 33673403, 34426522) (less)
Pathogenic (Jul 17, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Congenital disorder of deglycosylation 1 (Autosomal recessive inheritance) Affected status: unknown Allele origin: germline	Victorian Clinical Genetics Services, Murdoch Childrens Research Institute Additional submitter: Shariant Australia, Australian Genomics Accession: SCV005086562.1 First in ClinVar: Jul 23, 2024 Last updated: Jul 23, 2024	Publications: PubMed (1) PubMed: 32071843 Comment: Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more) Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with congenital disorder of deglycosylation (MIM#615273). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD v2 <0.01 for a recessive condition (52 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been observed in over ten individuals with congenital disorders of deglycosylation in both homozygous and compound heterozygous states (ClinVar, DECIPHER, PMID: 32071843). (SP) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
Pathogenic (Jan 22, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Congenital disorder of deglycosylation 1 Affected status: yes Allele origin: paternal	Baylor Genetics Accession: SCV001526742.1 First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021	Publications: PubMed (4) PubMed: 22581936‚ 26350515‚ 24651605‚ 27388694 Comment: This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with NGLY1 deficiency [PMID … (more) This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported in patients with NGLY1 deficiency [PMID 22581936, 26350515, 24651605, 27388694] (less)
Pathogenic (May 16, 2022)	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	Congenital disorder of deglycosylation Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV002547508.1 First in ClinVar: Jul 17, 2022 Last updated: Jul 17, 2022	Publications: PubMed (1) PubMed: 24651605 Comment: Variant summary: NGLY1 c.1201A>T (p.Arg401X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more) Variant summary: NGLY1 c.1201A>T (p.Arg401X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00018 in 251186 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in NGLY1 causing Congenital Disorder Of Deglycosylation (0.00018 vs 0.0011), allowing no conclusion about variant significance. c.1201A>T has been reported in the literature as homozygous and compound heterozygous genotypes in multiple individuals affected with Congenital Disorder Of Deglycosylation (example, Enns_2014). These data indicate that the variant is very likely to be associated with disease. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
Likely pathogenic (Oct 10, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Congenital disorder of deglycosylation 1 Affected status: yes Allele origin: germline	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center Accession: SCV003799093.2 First in ClinVar: Feb 13, 2023 Last updated: Mar 04, 2023	Comment: PVS1, PM3
Pathogenic (Feb 15, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Congenital disorder of deglycosylation 1 Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV003834902.1 First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023
Pathogenic (Sep 09, 2015)	criteria provided, single submitter (Bosch et al. (EJHG 2015)) Method: research	Congenital disorder of deglycosylation 1 (Autosomal recessive inheritance) Affected status: yes, no Allele origin: germline	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine Accession: SCV000258427.1 First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015	Publications: PubMed (1) PubMed: 26350515 Comment: This study shows that diverse genetic causes underlie CVI. Observation 1: Number of individuals with the variant: 1 Age: 0-9 years Sex: male Observation 2: Number of individuals with the variant: 2
Pathogenic (Oct 23, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen Accession: SCV001447023.1 First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020	Clinical Features: Global developmental delay (present) , Hepatic steatosis (present) , Failure to thrive in infancy (present) , Congenital laryngomalacia (present) , Gastroesophageal reflux (present) , Atrophy/Degeneration … (more) Global developmental delay (present) , Hepatic steatosis (present) , Failure to thrive in infancy (present) , Congenital laryngomalacia (present) , Gastroesophageal reflux (present) , Atrophy/Degeneration affecting the central nervous system (present) , Infantile axial hypotonia (present) , Decreased activity of mitochondrial complex I (present) , Chronic constipation (present) (less) Sex: male
Pathogenic (Feb 23, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Congenital disorder of deglycosylation 1 Affected status: yes Allele origin: unknown	3billion Accession: SCV003841933.1 First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023	Publications: PubMed (1) PubMed: 22581936 Comment: The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.018%). This variant was predicted to result in … (more) The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.018%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Shared with similarly affected family member (3billion dataset). The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000050962 / PMID: 22581936). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less) Clinical Features: Global developmental delay (present) , Generalized hypotonia (present) , Nystagmus (present) , Increased circulating lactate concentration (present) , Abnormal basal ganglia morphology (present) , Basal … (more) Global developmental delay (present) , Generalized hypotonia (present) , Nystagmus (present) , Increased circulating lactate concentration (present) , Abnormal basal ganglia morphology (present) , Basal ganglia calcification (present) , Developmental regression (present) (less)
Pathogenic (Jan 21, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Congenital disorder of deglycosylation Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000654066.8 First in ClinVar: Dec 26, 2017 Last updated: Feb 28, 2024	Publications: PubMed (4) PubMed: 28492532‚ 24651605‚ 26350515‚ 27388694 Comment: This sequence change creates a premature translational stop signal (p.Arg401) in the NGLY1 gene. It is expected to result in an absent or disrupted protein … (more) This sequence change creates a premature translational stop signal (p.Arg401) in the NGLY1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NGLY1 are known to be pathogenic (PMID: 24651605). This variant is present in population databases (rs201337954, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with NGLY1 deficiency (PMID: 24651605, 26350515, 27388694). ClinVar contains an entry for this variant (Variation ID: 50962). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Mar 01, 2020)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001334701.25 First in ClinVar: Jun 08, 2020 Last updated: Oct 20, 2024	Number of individuals with the variant: 1
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001740562.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001968799.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021
Pathogenic (Mar 20, 2014)	no assertion criteria provided Method: literature only	CONGENITAL DISORDER OF DEGLYCOSYLATION 1 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000071685.7 First in ClinVar: Jun 15, 2013 Last updated: Mar 12, 2022	Publications: PubMed (4) PubMed: 22581936‚ 24651605‚ 27388694‚ 31957011 Comment on evidence: For discussion of the arg401-to-ter (R401X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of … (more) For discussion of the arg401-to-ter (R401X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; 615273) by Need et al. (2012), see 610661.0001. In 5 patients from 3 families with CDDG1, Enns et al. (2014) identified a homozygous c.1201A-T transversion in exon 8 of the NGLY1 gene, resulting in an arg401-to-ter (R401X) substitution. All of the patients were Caucasian and of European descent, suggesting the possibility of a founder mutation. The R401X mutation was found in 2 of 8,598 chromosomes of European ancestry and once among African American chromosomes in the Exome Variant Server database. The R401X mutation was the most common among the 12 individuals studied by Lam et al. (2017), accounting for 7 alleles. In 3 unrelated patients with CDDG1, Panneman et al. (2020) identified the R401X mutation in the NGLY1 gene: patient 2 was homozygous for the mutation, whereas patient 1 also had a c.849T-G transversion, resulting in a cys283-to-trp (C283W; 610661.0006) substitution, and patient 3 had a c.1067A-G transition, resulting in a glu356-to-gly (E356G; 610661.0007) substitution. The mutations were identified by whole-exome sequencing, and the parents in all families were confirmed to be carriers. Western blot analysis in patient muscle tissue and fibroblasts showed absence of NGLY1 protein expression. (less)
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) Study: VKGL Data-share Consensus Accession: SCV001800049.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001959855.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
not provided (-)	no classification provided Method: literature only	Congenital disorder of deglycosylation Affected status: unknown Allele origin: germline	GeneReviews Accession: SCV000891725.2 First in ClinVar: Mar 24, 2019 Last updated: Oct 01, 2022	Publications: PubMed (2) PubMed: 29419975‚ 27388694 BookShelf: NBK481554 BookShelf: NBK481554
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Comment:

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26611529, 24651605, 32395402, 22581936, 26350515, 28750948, 27388694, 32071843, 32576142, 32422350, 33057211, 31965062, 31957011, 33673403, 34426522)

Comment:

Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with congenital disorder of deglycosylation (MIM#615273). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD v2 <0.01 for a recessive condition (52 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been observed in over ten individuals with congenital disorders of deglycosylation in both homozygous and compound heterozygous states (ClinVar, DECIPHER, PMID: 32071843). (SP) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

Comment:

Variant summary: NGLY1 c.1201A>T (p.Arg401X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 0.00018 in 251186 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in NGLY1 causing Congenital Disorder Of Deglycosylation (0.00018 vs 0.0011), allowing no conclusion about variant significance. c.1201A>T has been reported in the literature as homozygous and compound heterozygous genotypes in multiple individuals affected with Congenital Disorder Of Deglycosylation (example, Enns_2014). These data indicate that the variant is very likely to be associated with disease. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.018%). This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Shared with similarly affected family member (3billion dataset). The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000050962 / PMID: 22581936). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

Comment:

This sequence change creates a premature translational stop signal (p.Arg401*) in the NGLY1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NGLY1 are known to be pathogenic (PMID: 24651605). This variant is present in population databases (rs201337954, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with NGLY1 deficiency (PMID: 24651605, 26350515, 27388694). ClinVar contains an entry for this variant (Variation ID: 50962). For these reasons, this variant has been classified as Pathogenic.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.	Lipiński P	JIMD reports	2020	PMID: 32071843
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.	Panneman DM	Clinical genetics	2020	PMID: 31957011
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.	Lam C	Genetics in medicine : official journal of the American College of Medical Genetics	2017	PMID: 27388694
Novel genetic causes for cerebral visual impairment.	Bosch DG	European journal of human genetics : EJHG	2016	PMID: 26350515
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.	Enns GM	Genetics in medicine : official journal of the American College of Medical Genetics	2014	PMID: 24651605
Clinical application of exome sequencing in undiagnosed genetic conditions.	Need AC	Journal of medical genetics	2012	PMID: 22581936

Text-mined citations for rs201337954 ...

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 Oct 20, 2024

ClinVar Genomic variation as it relates to human health

NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs201337954 ...