Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Aug 17, 2021)
Last evaluated:
Apr 12, 2021
Accession:
VCV000043545.13
Variation ID:
43545
Description:
single nucleotide variant
Help

NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)

Allele ID
52714
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107710183 (GRCh38) GRCh38 UCSC
7: 107350628 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107350628G>T
NC_000007.14:g.107710183G>T
NG_008489.1:g.54549G>T
NM_000441.2:c.2219G>T MANE Select NP_000432.1:p.Gly740Val missense
Protein change
G740V
Other names
-
Canonical SPDI
NC_000007.14:107710182:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00025
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA132711
dbSNP: rs111033310
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 29, 2008 RCV000036481.2
Uncertain significance 1 criteria provided, single submitter Jul 1, 2017 RCV000584878.3
Uncertain significance 2 criteria provided, single submitter Apr 27, 2017 RCV001164905.2
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001164904.1
Likely pathogenic 1 criteria provided, single submitter Apr 12, 2021 RCV001375368.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
748 824

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 29, 2008)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060136.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Apr 12, 2021)
criteria provided, single submitter
Method: clinical testing
Hearing impairment
Allele origin: germline
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center
Accession: SCV001571751.2
Submitted: (Aug 17, 2021)
Evidence details
Comment:
PM2_Supporting, PM3_Moderate, PP4_Supporting
Uncertain significance
(Jul 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000693249.10
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001327065.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (3)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Pendred syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001327066.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Pendred syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001459943.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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.

Citations for this variant

Help
Title Author Journal Year Link
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. Landa P BMC medical genetics 2013 PMID: 23965030
Significance of unilateral enlarged vestibular aqueduct. Greinwald J The Laryngoscope 2013 PMID: 23401162
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
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
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

Text-mined citations for rs111033310...

Help
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 07, 2021