ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)

dbSNP: rs114534505
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036761 SCV000060416 benign not specified 2012-04-12 criteria provided, single submitter clinical testing Arg1718Arg in Exon 37 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.3% (46/3638) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs114534505).
GeneDx RCV000036761 SCV000171415 benign not specified 2013-05-07 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.
Eurofins Ntd Llc (ga) RCV000036761 SCV000203481 benign not specified 2014-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001093766 SCV000285734 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-02-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285637 SCV000356307 likely benign Arrhythmogenic right ventricular dysplasia 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001093766 SCV000356308 benign Catecholaminergic polymorphic ventricular tachycardia 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769784 SCV000901209 benign Cardiomyopathy 2016-10-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769784 SCV000911307 benign Cardiomyopathy 2018-08-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036761 SCV001362244 benign not specified 2019-07-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811251 SCV002047886 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811251 SCV004009952 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing RYR2: BP4, BP7, BS1
All of Us Research Program, National Institutes of Health RCV003996288 SCV004819361 benign Catecholaminergic polymorphic ventricular tachycardia 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811251 SCV005257420 likely benign not provided criteria provided, single submitter not provided

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