ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.533-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004601040 SCV005096331 likely pathogenic Cardiovascular phenotype 2024-03-15 criteria provided, single submitter clinical testing The c.533-2A>G intronic variant results from an A to G substitution two nucleotides before coding exon 5 in the CASQ2 gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005003776 SCV005629686 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2 2024-01-26 criteria provided, single submitter clinical testing

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