ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)

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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 RCV002380403 SCV002670466 uncertain significance Cardiovascular phenotype 2018-05-01 criteria provided, single submitter clinical testing The p.R246Q variant (also known as c.737G>A), located in coding exon 5 of the CACNA1C gene, results from a G to A substitution at nucleotide position 737. The arginine at codon 246 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
GeneDx RCV003317598 SCV004021490 pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD)

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