ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)

dbSNP: rs2129318281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780275 SCV002023543 likely pathogenic not provided 2019-11-22 criteria provided, single submitter clinical testing
Invitae RCV001780275 SCV003440094 pathogenic not provided 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 664 of the SLC26A4 protein (p.Ala664Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SLC26A4-related conditions (PMID: 21961810, 33597575, 34170635). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1065212). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC26A4 protein function. Experimental studies have shown that this missense change affects SLC26A4 function (PMID: 23185506). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001375689 SCV004202419 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 2022-06-23 criteria provided, single submitter clinical testing
Precision Medicine Center, Zhengzhou University RCV001375689 SCV001572610 pathogenic Autosomal recessive nonsyndromic hearing loss 4 no assertion criteria provided research PM2: not found in gnomAD PM3_VeryStrong: Pathogenic mutation confirmed in trans in one patient and phase unknown in six patients PP3: REVEL score >0.7 PP4: Patient's phenotype highly specific for gene

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