ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.594C>T (p.Asn198=)

gnomAD frequency: 0.00005  dbSNP: rs727504676
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Total submissions: 7
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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 RCV000155944 SCV000205656 likely benign not specified 2013-08-14 criteria provided, single submitter clinical testing Asn198Asn in exon 9 of RYR2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Asn198Asn in exon 9 of RYR2 (allele frequency = n/a)
GeneDx RCV000155944 SCV000522937 likely benign not specified 2017-03-14 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.
Color Diagnostics, LLC DBA Color Health RCV000778001 SCV000914109 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV002515005 SCV001004434 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354379 SCV002654849 likely benign Cardiovascular phenotype 2021-04-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155944 SCV004038019 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736610 SCV004563590 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing

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