ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.263C>T (p.Ala88Val)

dbSNP: rs1555341945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949480 SCV002238291 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with autosomal dominant keratitis–ichthyosis–deafness (KID) syndrome (PMID: 20629838). In at least one individual the variant was observed to be de novo. This sequence change replaces alanine with valine at codon 88 of the GJB2 protein (p.Ala88Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). 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 GJB2 protein function. Experimental studies have shown that this missense change affects GJB2 function (PMID: 23447037). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004565138 SCV005049771 pathogenic Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 2024-01-08 criteria provided, single submitter clinical testing

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