ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.492C>T (p.Tyr164=)

gnomAD frequency: 0.00001  dbSNP: rs886038422
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241627 SCV000307079 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003525889 SCV001638749 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338484 SCV004048936 likely benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380531 SCV004091437 likely benign Cardiovascular phenotype 2023-08-13 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.

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