NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001048975.2

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)]

NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
HGVS:
  • NC_000007.14:g.107701998G>C
  • NG_008489.1:g.46364G>C
  • NM_000441.2:c.1975G>CMANE SELECT
  • NP_000432.1:p.Val659Leu
  • NC_000007.13:g.107342443G>C
  • NM_000441.1:c.1975G>C
  • p.Val659Leu
Protein change:
V659L
Links:
dbSNP: rs200455203
NCBI 1000 Genomes Browser:
rs200455203
Molecular consequence:
  • NM_000441.2:c.1975G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001213005Invitaecriteria provided, single submitter
Pathogenic
(Aug 27, 2020)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J.

J Hum Genet. 2007;52(6):492-497. doi: 10.1007/s10038-007-0139-0. Epub 2007 Apr 19.

PubMed [citation]
PMID:
17443271

Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.

Mercer S, Mutton P, Dahl HH.

Genet Test Mol Biomarkers. 2011 May;15(5):365-8. doi: 10.1089/gtmb.2010.0177. Epub 2011 Mar 2.

PubMed [citation]
PMID:
21366435
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV001213005.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This sequence change replaces valine with leucine at codon 659 of the SLC26A4 protein (p.Val659Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs200455203, ExAC 0.01%). This variant has been observed in individual(s) with enlarged vestibular aqueduct (PMID: 17443271, 21366435, 21961810, 22289209, 23385134, 25372295, 25266519, 26100058). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 188889). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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