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NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 20, 2020
Accession:
VCV000996638.2
Variation ID:
996638
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)

Allele ID
984330
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107674164 (GRCh38) GRCh38 UCSC
7: 107314609 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107314609G>T
NC_000007.14:g.107674164G>T
NG_008489.1:g.18530G>T
NM_000441.2:c.416G>T MANE Select NP_000432.1:p.Gly139Val missense
Protein change
G139V
Other names
-
Canonical SPDI
NC_000007.14:107674163:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 20, 2020 RCV001378586.1
Likely pathogenic 1 no assertion criteria provided - RCV001291245.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
749 825

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001576188.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces glycine with valine at codon 139 of the SLC26A4 protein (p.Gly139Val). The glycine residue is highly conserved and there is a … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
non-syndromic autosomal recessive hearing loss
Allele origin: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479670.1
Submitted: (Nov 16, 2020)
Evidence details

Functional evidence

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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

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Title Author Journal Year Link
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Richard EM Human mutation 2019 PMID: 30303587
The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. Reiisi S International journal of molecular and cellular medicine 2014 PMID: 25317404
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. Chai Y American journal of medical genetics. Part A 2013 PMID: 23918157
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. Anwar S Journal of human genetics 2009 PMID: 19287372
Two frequent missense mutations in Pendred syndrome. Van Hauwe P Human molecular genetics 1998 PMID: 9618166

Record last updated Sep 06, 2021