ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)

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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 RCV003527438 SCV004307207 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu139Glyfs*4) in the CASQ2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CASQ2 are known to be pathogenic (PMID: 12386154). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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