ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)

dbSNP: rs121918605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000013828 SCV001227038 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2019-11-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect RYR2 protein function (PMID: 16239587, 15197150, 18092949). This variant has been observed to segregate with RYR2-related conditions in a family (PMID: 11157710) and reported in an individual with clinical features of RYR2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 12962). This sequence change replaces glutamine with arginine at codon 4201 of the RYR2 protein (p.Gln4201Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
OMIM RCV000013828 SCV000034075 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2004-06-29 no assertion criteria provided literature only
GeneReviews RCV000013828 SCV000057856 not provided Catecholaminergic polymorphic ventricular tachycardia 1 no assertion provided literature only

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