Total submissions: 3
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 | |
Gene |
RCV000013828 | SCV000057856 | not provided | Catecholaminergic polymorphic ventricular tachycardia 1 | no assertion provided | literature only |