VCV000004839.63 - ClinVar

NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)

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.

(20)

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_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)

Variation ID: 4839 Accession: VCV000004839.63

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 7q22.3 7: 107661726 (GRCh38) [ NCBI UCSC ] 7: 107302171 (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	Mar 29, 2015	Oct 20, 2024	Jun 11, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_000441.2:c.85G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000432.1:p.Glu29Gln	missense
NR_028137.1:n.73C>G		non-coding transcript variant
NC_000007.14:g.107661726G>C
NC_000007.13:g.107302171G>C
NG_008489.1:g.6092G>C
	O43511:p.Glu29Gln

... more HGVS ... less HGVS

Protein change

E29Q

Other names

Canonical SPDI

NC_000007.14:107661725:G:C

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.

The Genome Aggregation Database (gnomAD) 0.00011

Trans-Omics for Precision Medicine (TOPMed) 0.00012

Links

ClinGen: CA253315 UniProtKB: O43511#VAR_021640 OMIM: 605646.0028 dbSNP: rs111033205 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.
SLC26A4		-	-	GRCh38 GRCh37	1386	1585
SLC26A4-AS1	-	-	-	GRCh38	-	104

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.
Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	Mar 30, 2024	RCV000005111.16
Rare genetic deafness	Pathogenic (1)	criteria provided, single submitter	Sep 14, 2015	RCV000036509.7
Pendred syndrome	Pathogenic (3)	criteria provided, single submitter	Sep 5, 2021	RCV000169251.6
Wolff-Parkinson-White pattern	Likely pathogenic (1)	no assertion criteria provided	Jul 14, 2017	RCV000656195.2
not provided	Pathogenic/Likely pathogenic (7)	criteria provided, multiple submitters, no conflicts	Jun 11, 2024	RCV001040420.40
Autosomal recessive nonsyndromic hearing loss 4 Pendred syndrome	Pathogenic (1)	criteria provided, single submitter	Aug 11, 2021	RCV002496264.2
SLC26A4-related disorder	Pathogenic (1)	criteria provided, single submitter	Nov 24, 2018	RCV004528081.1

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 (Sep 14, 2015)	criteria provided, single submitter (LMM Criteria) Method: clinical testing	Rare genetic deafness (Autosomal recessive inheritance) Affected status: not provided Allele origin: germline	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine Accession: SCV000060164.6 First in ClinVar: May 03, 2013 Last updated: May 29, 2016	Publications: PubMed (12) PubMed: 11317356‚ 14679580‚ 15355436‚ 16570074‚ 15099345‚ 16950989‚ 19017801‚ 18285825‚ 17503324‚ 20597900‚ 24224479‚ 23336812 Comment: The p.Glu29Gln variant in SLC26A4 has been identified in multiple individuals wi th hearing loss and temporal bone abnormalities including over 15 probands who w … (more) The p.Glu29Gln variant in SLC26A4 has been identified in multiple individuals wi th hearing loss and temporal bone abnormalities including over 15 probands who w ere compound heterozygous with another pathogenic variant in SLC26A4, and it has segregated in three affected siblings (Albert 2006, Campbell 2001, Gardner 2006 , Ladsous 2014, Pera 2008, Pourova 2010, Rendtorff 2013, LMM unpublished data). Functional studies have demonstrated that this variant impacts the protein func tion (Pera 2008). In summary, this variant meets our criteria to be classified as pathogenic for DFNB4 nonsyndromic hearing loss or Pendred syndrome in an auto somal recessive manner. (less) Number of individuals with the variant: 11
Pathogenic (Sep 05, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive nonsyndromic hearing loss 4 Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV002026487.1 First in ClinVar: Nov 29, 2021 Last updated: Nov 29, 2021
Pathogenic (Sep 05, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Pendred syndrome Affected status: no Allele origin: germline	Genome-Nilou Lab Accession: SCV002026498.1 First in ClinVar: Nov 29, 2021 Last updated: Nov 29, 2021
Pathogenic (Mar 15, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive nonsyndromic hearing loss 4 Affected status: yes Allele origin: germline	MGZ Medical Genetics Center Accession: SCV002579551.1 First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 Comment: ACMG criteria applied: PM3_STR, PS3_MOD, PS4_MOD, PM5, PM2_SUP, PP3	Number of individuals with the variant: 2 Sex: female
Likely pathogenic (Dec 11, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV002023544.3 First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024
Pathogenic (Nov 24, 2018)	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019) Method: clinical testing	SLC26A4-Related Disorders Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000915189.1 First in ClinVar: May 27, 2019 Last updated: May 27, 2019	Publications: PubMed (9) PubMed: 19017801‚ 24224479‚ 20597900‚ 23336812‚ 14679580‚ 16570074‚ 15355436‚ 17503324‚ 11317356 Comment: Across a selection of the available literature, the SLC26A4 c.85G>C (p.Glu29Gln) missense variant has been reported in at least nine studies in which it was … (more) Across a selection of the available literature, the SLC26A4 c.85G>C (p.Glu29Gln) missense variant has been reported in at least nine studies in which it was identified in a total of 18 individuals, including in a compound heterozygous state in 14 individuals, in a heterozygous state in three individuals, in a double heterozygous state in one individual and in one individual with unknown zygosity. Affected individuals were diagnosed with either Pendred syndrome, an autosomal recessive form of deafness, or enlarged vestibular aqueduct or Mondini dysplasia (Campbell et al. 2001; Prasad et al. 2004; Blons et al. 2004; Alberts et al. 2006; Yang et al. 2007; Pera et al. 2008; Pourova et al. 2010; Rendtorff et al. 2013; Ladous et al. 2014). The p.Glu29Gln variant was found to segregate in at least one study (Yang et al. 2007). The variant was absent from 469 controls and is reported at a frequency of 0.000229 in the European (non-Finnish) population of the Genome Aggregation Database. Functional studies using fluorimetric measurements showed that the p.Glu29Gln variant protein has reduced chloride/iodide transport (Pera et al. 2008). Based on the collective evidence, the p.Glu29Gln variant is classified as pathogenic for SLC26A4-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
Pathogenic (Nov 10, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive nonsyndromic hearing loss 4 Affected status: yes Allele origin: germline	The Shared Resource Centre "Genome", Research Centre for Medical Genetics Accession: SCV002756449.1 First in ClinVar: Dec 03, 2022 Last updated: Dec 03, 2022	Number of individuals with the variant: 1
Pathogenic (Aug 11, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Pendred syndrome Autosomal recessive nonsyndromic hearing loss 4 Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV002806806.1 First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022
Pathogenic (Sep 16, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Not provided Affected status: unknown Allele origin: germline	Mayo Clinic Laboratories, Mayo Clinic Accession: SCV004225730.1 First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024	Publications: PubMed (16) PubMed: 11317356‚ 14679580‚ 15099345‚ 15355436‚ 16570074‚ 16950989‚ 17503324‚ 18285825‚ 19017801‚ 20597900‚ 23336812‚ 24224479‚ 25394566‚ 31541171‚ 31589614‚ 34426522 Comment: PM2_supporting, PM3_very_strong, PS3_supporting Number of individuals with the variant: 1
Pathogenic (Jan 02, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001203995.5 First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024	Publications: PubMed (8) PubMed: 11317356‚ 15355436‚ 16570074‚ 20597900‚ 25394566‚ 19017801‚ 22285650‚ 25372295 Comment: This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 29 of the SLC26A4 protein … (more) This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 29 of the SLC26A4 protein (p.Glu29Gln). This variant is present in population databases (rs111033205, gnomAD 0.03%). This missense change has been observed in individuals with SLC26A4-related conditions (PMID: 11317356, 15355436, 16570074, 20597900, 25394566). ClinVar contains an entry for this variant (Variation ID: 4839). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change affects SLC26A4 function (PMID: 19017801). This variant disrupts the p.Glu29 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been observed in individuals with SLC26A4-related conditions (PMID: 22285650, 25372295), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Mar 30, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Autosomal recessive nonsyndromic hearing loss 4 Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV004201815.2 First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024
Pathogenic (Jun 11, 2024)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001779676.4 First in ClinVar: Aug 12, 2021 Last updated: Sep 16, 2024	Comment: Published functional studies demonstrate a damaging effect due to reduced iodide transport activity (PMID: 19017801); This variant is associated with the following publications: (PMID: 14679580, … (more) Published functional studies demonstrate a damaging effect due to reduced iodide transport activity (PMID: 19017801); This variant is associated with the following publications: (PMID: 14679580, 29372807, 24224479, 17503324, 16950989, 18285825, 15099345, 15355436, 16570074, 20597900, 23336812, 31589614, 34426522, 34170635, 33199029, 31541171, 36499699, 11317356, 19017801, 36555390, 36833263, 25394566) (less)
Pathogenic (Feb 01, 2019)	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: SCV001249281.26 First in ClinVar: May 09, 2020 Last updated: Oct 20, 2024	Number of individuals with the variant: 2
Pathogenic (Aug 01, 2008)	no assertion criteria provided Method: literature only	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC Affected status: not provided Allele origin: germline	OMIM Accession: SCV000025287.3 First in ClinVar: Apr 04, 2013 Last updated: Oct 07, 2016	Publications: PubMed (3) PubMed: 17503324‚ 12642503‚ 18285825 Comment on evidence: Yang et al. (2007) described a girl with nonsyndromic autosomal recessive deafness-4 with enlarged vestibular aqueduct (DFNB4; 600791) who was doubly heterozygous for a glu29-to-gln … (more) Yang et al. (2007) described a girl with nonsyndromic autosomal recessive deafness-4 with enlarged vestibular aqueduct (DFNB4; 600791) who was doubly heterozygous for a glu29-to-gln (E29Q) mutation in SLC26A4 and a gly258-to-glu (G258E) missense mutation in FOXI1 (601093.0001). The unaffected parents were each heterozygous for 1 of the mutations, respectively, and her unaffected sister carried only the E29Q mutation in SLC26A4. Yang et al. (2007) suggested that although other inheritance patterns, such as FOXI1 compound heterozygosity with a yet-to-be-identified FOXI1 mutation, could not be completely excluded, the pathogenicity of the double-heterozygous genotype was supported by several facts. First, the mouse mutant that is a double heterozygote for mutations in these 2 genes has a similar phenotype (Hulander et al., 2003). Second, the FOXI1 G258E mutation reduced transcription of SLC26A4 in vitro. Third, the SLC26A4 E29Q mutation had been reported previously in families segregating Pendred syndrome in association with other SLC26A4 mutations. Fourth, both the affected and the unaffected child had identical SLC26A4 genotypes, which was consistent with the presence of an additional genetic modifier in the affected child. Fifth, neither of these mutations had been reported in screens of 500 chromosomes. Yang et al. (2007) concluded that this was the first example of digenic inheritance to be verified as a cause of human deafness. Pera et al. (2008) identified the E29Q variant in 1 of 214 Spanish control individuals with normal hearing. (less)
Likely pathogenic (Jul 14, 2017)	no assertion criteria provided Method: research	Wolff-Parkinson-White pattern Affected status: yes Allele origin: unknown	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine Study: Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome Accession: SCV000678389.1 First in ClinVar: Jun 02, 2018 Last updated: Jun 02, 2018	Comment: This variant was identified in an individual with Wolff-Parkinson-White syndrome Number of individuals with the variant: 1
Pathogenic (Sep 16, 2020)	no assertion criteria provided Method: clinical testing	Pendred syndrome Affected status: unknown Allele origin: germline	Natera, Inc. Accession: SCV001455791.1 First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 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: SCV001952914.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 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: SCV001966500.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021
Likely pathogenic (Feb 26, 2019)	no assertion criteria provided Method: case-control	Autosomal recessive nonsyndromic hearing loss 4 Affected status: yes Allele origin: inherited	Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital Accession: SCV000902384.1 First in ClinVar: May 12, 2019 Last updated: May 12, 2019	Number of individuals with the variant: 3 Clinical Features: hearing loss (present) Family history: yes
Pathogenic (Jun 09, 2019)	no assertion criteria provided Method: clinical testing	Pendred syndrome Affected status: unknown Allele origin: unknown	Counsyl Accession: SCV000220535.2 First in ClinVar: Mar 29, 2015 Last updated: Dec 23, 2019	Publications: PubMed (4) PubMed: 16570074‚ 19017801‚ 23336812‚ 11317356
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Comment:

The p.Glu29Gln variant in SLC26A4 has been identified in multiple individuals wi th hearing loss and temporal bone abnormalities including over 15 probands who w ere compound heterozygous with another pathogenic variant in SLC26A4, and it has segregated in three affected siblings (Albert 2006, Campbell 2001, Gardner 2006 , Ladsous 2014, Pera 2008, Pourova 2010, Rendtorff 2013, LMM unpublished data). Functional studies have demonstrated that this variant impacts the protein func tion (Pera 2008). In summary, this variant meets our criteria to be classified as pathogenic for DFNB4 nonsyndromic hearing loss or Pendred syndrome in an auto somal recessive manner.

Comment:

Across a selection of the available literature, the SLC26A4 c.85G>C (p.Glu29Gln) missense variant has been reported in at least nine studies in which it was identified in a total of 18 individuals, including in a compound heterozygous state in 14 individuals, in a heterozygous state in three individuals, in a double heterozygous state in one individual and in one individual with unknown zygosity. Affected individuals were diagnosed with either Pendred syndrome, an autosomal recessive form of deafness, or enlarged vestibular aqueduct or Mondini dysplasia (Campbell et al. 2001; Prasad et al. 2004; Blons et al. 2004; Alberts et al. 2006; Yang et al. 2007; Pera et al. 2008; Pourova et al. 2010; Rendtorff et al. 2013; Ladous et al. 2014). The p.Glu29Gln variant was found to segregate in at least one study (Yang et al. 2007). The variant was absent from 469 controls and is reported at a frequency of 0.000229 in the European (non-Finnish) population of the Genome Aggregation Database. Functional studies using fluorimetric measurements showed that the p.Glu29Gln variant protein has reduced chloride/iodide transport (Pera et al. 2008). Based on the collective evidence, the p.Glu29Gln variant is classified as pathogenic for SLC26A4-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

Comment:

This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 29 of the SLC26A4 protein (p.Glu29Gln). This variant is present in population databases (rs111033205, gnomAD 0.03%). This missense change has been observed in individuals with SLC26A4-related conditions (PMID: 11317356, 15355436, 16570074, 20597900, 25394566). ClinVar contains an entry for this variant (Variation ID: 4839). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change affects SLC26A4 function (PMID: 19017801). This variant disrupts the p.Glu29 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been observed in individuals with SLC26A4-related conditions (PMID: 22285650, 25372295), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.

Comment:

Published functional studies demonstrate a damaging effect due to reduced iodide transport activity (PMID: 19017801); This variant is associated with the following publications: (PMID: 14679580, 29372807, 24224479, 17503324, 16950989, 18285825, 15099345, 15355436, 16570074, 20597900, 23336812, 31589614, 34426522, 34170635, 33199029, 31541171, 36499699, 11317356, 19017801, 36555390, 36833263, 25394566)

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
The genetic structure of the Turkish population reveals high levels of variation and admixture.	Kars ME	Proceedings of the National Academy of Sciences of the United States of America	2021	PMID: 34426522
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.	Yuan Y	European journal of human genetics : EJHG	2020	PMID: 31541171
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.	Capalbo A	PLoS genetics	2019	PMID: 31589614
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.	Soh LM	European journal of endocrinology	2015	PMID: 25394566
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.	Zhao J	PloS one	2014	PMID: 25372295
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.	Ladsous M	Thyroid : official journal of the American Thyroid Association	2014	PMID: 24224479
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.	Rendtorff ND	Clinical genetics	2013	PMID: 23336812
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.	Cirello V	Molecular and cellular endocrinology	2012	PMID: 22285650
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).	Pourová R	Annals of human genetics	2010	PMID: 20597900
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.	Pera A	Proceedings of the National Academy of Sciences of the United States of America	2008	PMID: 19017801
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.	Pera A	European journal of human genetics : EJHG	2008	PMID: 18285825
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).	Yang T	American journal of human genetics	2007	PMID: 17503324
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.	Gardner P	Pediatrics	2006	PMID: 16950989
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.	Albert S	European journal of human genetics : EJHG	2006	PMID: 16570074
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.	Blons H	Clinical genetics	2004	PMID: 15355436
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.	Shears D	Clinical genetics	2004	PMID: 15099345
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.	Prasad S	American journal of medical genetics. Part A	2004	PMID: 14679580
Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice.	Hulander M	Development (Cambridge, England)	2003	PMID: 12642503
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.	Campbell C	Human mutation	2001	PMID: 11317356
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Text-mined citations for rs111033205 ...

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_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs111033205 ...