ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)

dbSNP: rs1345175795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665958 SCV000790176 likely pathogenic Pendred syndrome 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV002530669 SCV003440089 pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 551009). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 76 of the SLC26A4 protein (p.Pro76Leu). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with nonsyndromic enlargement of vestibular aqueduct (PMID: 17718863, 25372295). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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. For these reasons, this variant has been classified as Pathogenic.

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