ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys)

gnomAD frequency: 0.00001  dbSNP: rs575326580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762932 SCV001988928 uncertain significance not provided 2020-11-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25163546)
Ambry Genetics RCV002386516 SCV002702592 uncertain significance Cardiovascular phenotype 2020-01-02 criteria provided, single submitter clinical testing The p.M344K variant (also known as c.1031T>A), located in coding exon 11 of the CASQ2 gene, results from a T to A substitution at nucleotide position 1031. The methionine at codon 344 is replaced by lysine, an amino acid with similar properties. This alteration was reported in a dilated cardiomyopathy (DCM) cohort (Haas J et al. Eur. Heart J., 2015 May;36:1123-35a). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003346667 SCV004050773 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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