ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)

gnomAD frequency: 0.00001  dbSNP: rs1464980383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299756 SCV001488863 uncertain significance Long QT syndrome 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2031 of the CACNA1C protein (p.Gly2031Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1003227). 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 with a negative predictive value of 95%. 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 RCV002357095 SCV002661016 uncertain significance Cardiovascular phenotype 2021-06-15 criteria provided, single submitter clinical testing The p.G2031S variant (also known as c.6091G>A), located in coding exon 46 of the CACNA1C gene, results from a G to A substitution at nucleotide position 6091. The glycine at codon 2031 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV002499556 SCV002794263 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-11-04 criteria provided, single submitter clinical testing

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