ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.8395C>G (p.Arg2799Gly)

dbSNP: rs587777451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV001250663 SCV001425535 likely pathogenic Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome criteria provided, single submitter research
Invitae RCV002570427 SCV003239549 pathogenic not provided 2022-12-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 973945). This missense change has been observed in individual(s) with PIEZO2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 2686 of the PIEZO2 protein (p.Arg2686Gly). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg2686 amino acid residue in PIEZO2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24726473, 31680123, 32901917). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 PIEZO2 protein function.

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