ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter)

gnomAD frequency: 0.00001  dbSNP: rs754834466
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065165 SCV001230112 pathogenic Catecholaminergic polymorphic ventricular tachycardia 2019-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln245*) in the CASQ2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754834466, ExAC 0.01%). This variant has not been reported in the literature in individuals with CASQ2-related conditions. Loss-of-function variants in CASQ2 are known to be pathogenic (PMID: 12386154). For these reasons, this variant has been classified as Pathogenic.

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