ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)

gnomAD frequency: 0.00001  dbSNP: rs776874142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000497882 SCV000579516 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2 2017-02-09 criteria provided, single submitter clinical testing ACMG score likely pathogenic
Labcorp Genetics (formerly Invitae), Labcorp RCV002527048 SCV002151140 pathogenic Catecholaminergic polymorphic ventricular tachycardia 1 2022-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp261*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 427947). This premature translational stop signal has been observed in individual(s) with catecholaminergic polymorphic ventricular tachycardia (PMID: 32693635). This variant is present in population databases (rs776874142, gnomAD 0.004%).
Genome-Nilou Lab RCV000497882 SCV004050808 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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