ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4659C>T (p.Phe1553=)

dbSNP: rs767900430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002563301 SCV001700942 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329610 SCV002633764 likely benign Cardiovascular phenotype 2022-10-27 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.
All of Us Research Program, National Institutes of Health RCV004007196 SCV004831490 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-06-26 criteria provided, single submitter clinical testing This variant is located in the RYR2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has been identified in 1/248214 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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