Submissions for variant NM_001035.3(RYR2):c.1134C>T (p.Asp378=)

gnomAD frequency: 0.00071  dbSNP: rs193922621

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036659	SCV000060314	likely benign	not specified	2015-08-06	criteria provided, single submitter	clinical testing	p.Asp378Asp in exon 13 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. It has been identified in 0.1% (69/66454) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs193922621).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002513259	SCV000554556	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2025-01-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036659	SCV000697602	benign	not specified	2016-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618643	SCV000736886	likely benign	Cardiovascular phenotype	2017-09-28	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	RCV000769772	SCV000901195	likely benign	Cardiomyopathy	2017-05-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769772	SCV000903649	likely benign	Cardiomyopathy	2018-07-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529729	SCV001474519	likely benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001529729	SCV001911811	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529729	SCV002544381	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	RYR2: BP4, BP7, BS1
All of Us Research Program, National Institutes of Health	RCV003996134	SCV004846702	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2024-02-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529729	SCV001743686	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036659	SCV001924997	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529729	SCV001931734	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036659	SCV001951419	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529729	SCV001973754	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532427	SCV004741857	likely benign	RYR2-related disorder	2019-02-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).