ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)

dbSNP: rs121918601
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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 RCV003151726 SCV004292012 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2022-11-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 12958). 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 RYR2 protein function. Experimental studies have shown that this missense change affects RYR2 function (PMID: 15364613, 22828895). For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with autosomal dominant RYR2-related conditions (PMID: 11159936). It has also been observed to segregate with disease in related individuals. This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2386 of the RYR2 protein (p.Asn2386Ile). This variant is not present in population databases (gnomAD no frequency).
OMIM RCV003151726 SCV000034071 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2001-02-01 no assertion criteria provided literature only

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