ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly)

dbSNP: rs111033344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036484 SCV000060139 uncertain significance not specified 2008-03-01 criteria provided, single submitter clinical testing
Invitae RCV002513384 SCV003315038 likely pathogenic not provided 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 87 of the SLC26A4 protein (p.Asp87Gly). 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: 34171171). ClinVar contains an entry for this variant (Variation ID: 43548). 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) performed at Invitae indicates that this missense variant is expected to disrupt SLC26A4 protein function with a positive predictive value of 95%. This variant disrupts the p.Asp87 amino acid residue in SLC26A4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19199245, 24612839, 25372295). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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