Submissions for variant NM_001035.3(RYR2):c.726C>T (p.Asp242=)

gnomAD frequency: 0.00119  dbSNP: rs76380341

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127817	SCV000171399	benign	not specified	2013-12-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000127817	SCV000269794	benign	not specified	2015-04-13	criteria provided, single submitter	clinical testing	p.Asp242Asp in exon 10 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.3% (33/9644) of Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs76380341).
Invitae	RCV002514686	SCV000637604	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621409	SCV000738044	likely benign	Cardiovascular phenotype	2017-06-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768756	SCV000900126	benign	Cardiomyopathy	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000768756	SCV000913829	benign	Cardiomyopathy	2018-08-06	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000127817	SCV001921534	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727593	SCV001973255	likely benign	not provided		no assertion criteria provided	clinical testing