Submissions for variant NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)

gnomAD frequency: 0.00001  dbSNP: rs768161152

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213991	SCV000270804	likely benign	not specified	2014-12-31	criteria provided, single submitter	clinical testing	p.Ala4442Ala in exon 91 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue. It is located with in the exonic part of the splice consensus but does not cause the splice site se quence to diverge from consensus.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002517497	SCV000554595	likely benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619737	SCV000738026	likely benign	Cardiovascular phenotype	2017-05-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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	RCV000769811	SCV000901237	uncertain significance	Cardiomyopathy	2015-09-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769811	SCV001353184	likely benign	Cardiomyopathy	2018-10-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001312135	SCV001860197	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing