ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1554352718
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668101 SCV000792651 likely pathogenic Pendred syndrome 2017-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532067 SCV003440082 pathogenic not provided 2022-05-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 87 of the SLC26A4 protein (p.Asp87Tyr). This missense change has been observed in individuals with deafness (PMID: 19199245, 24612839, 25372295). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SLC26A4 function (PMID: 23185506). 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. ClinVar contains an entry for this variant (Variation ID: 552777).
GeneDx RCV002532067 SCV005324849 pathogenic not provided 2023-07-25 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on protein expression levels and transporter activity (PMID: 23185506); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25372295, 19199245, 34410491, 33907123, 30275481, 27771369, 22412181, 24612839, 23185506)
Fulgent Genetics, Fulgent Genetics RCV005046877 SCV005674151 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome 2024-03-12 criteria provided, single submitter clinical testing

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