ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)

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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 RCV003526716 SCV004272835 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2023-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CASQ2 protein in which other variant(s) (p.Leu366Pro) have been determined to be pathogenic (PMID: 32693635). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with catecholaminergic polymorphic ventricular tachycardia (PMID: 23595086, 30729048). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp361*) in the CASQ2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the CASQ2 protein.

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