ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.1059A>T (p.Pro353=)

dbSNP: rs754889548
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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 RCV002555137 SCV001628811 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298723 SCV004001939 likely benign Cardiovascular phenotype 2023-05-27 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.
Genome-Nilou Lab RCV003346553 SCV004050769 likely benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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