ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)

gnomAD frequency: 0.00001  dbSNP: rs730880194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000157462 SCV000820261 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RYR2 function (PMID: 33686871). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 180499). This missense change has been observed in individual(s) with autosomal recessive ventricular fibrillation and sudden death (PMID: 33686871, 35352813). It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3118 of the RYR2 protein (p.Gly3118Arg).
Blueprint Genetics RCV000157462 SCV000207206 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2014-08-22 no assertion criteria provided clinical testing

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