Submissions for variant NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)

gnomAD frequency: 0.00001  dbSNP: rs397516515

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036695	SCV000060350	likely benign	not specified	2012-10-17	criteria provided, single submitter	clinical testing	Lys4805Lys in exon 100 of RYR2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Lys4805Lys in exon 100 of RYR2 (allele fre quency = n/a)
GeneDx	RCV000036695	SCV000521603	likely benign	not specified	2015-12-01	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.
Invitae	RCV002513408	SCV000637527	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2023-12-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177345	SCV001341540	likely benign	Cardiomyopathy	2019-03-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390144	SCV002699356	likely benign	Cardiovascular phenotype	2022-03-19	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.