ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472920 SCV004202427 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2021-12-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003553969 SCV004295486 pathogenic not provided 2022-11-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This missense change has been observed in individual(s) with clinical features of Pendred syndrome (PMID: 25372295, 30554688). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 223 of the SLC26A4 protein (p.Phe223Ser).

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