ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly)

dbSNP: rs766262489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817455 SCV000958016 uncertain significance Long QT syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 2132 of the CACNA1C protein (p.Arg2132Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 660291). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1C protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003166369 SCV003863924 uncertain significance Cardiovascular phenotype 2022-11-09 criteria provided, single submitter clinical testing The p.R2132G variant (also known as c.6394A>G), located in coding exon 47 of the CACNA1C gene, results from an A to G substitution at nucleotide position 6394. The arginine at codon 2132 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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