ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu)

dbSNP: rs780769796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773943 SCV001992181 uncertain significance not provided 2019-01-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016)
Ambry Genetics RCV003163831 SCV003854307 uncertain significance Cardiovascular phenotype 2023-03-07 criteria provided, single submitter clinical testing The p.P231L variant (also known as c.692C>T), located in coding exon 6 of the CASQ2 gene, results from a C to T substitution at nucleotide position 692. The proline at codon 231 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339731 SCV004048918 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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