ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.681C>T (p.Ile227=)

gnomAD frequency: 0.00003  dbSNP: rs769189583
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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 RCV002553398 SCV001604822 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368264 SCV002664936 likely benign Cardiovascular phenotype 2022-02-02 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 RCV003339634 SCV004048920 likely benign Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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