ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala)

dbSNP: rs755430543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475012 SCV000553001 likely benign Long QT syndrome 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318531 SCV000850819 uncertain significance Cardiovascular phenotype 2023-08-15 criteria provided, single submitter clinical testing The p.G2092A variant (also known as c.6275G>C), located in coding exon 47 of the CACNA1C gene, results from a G to C substitution at nucleotide position 6275. The glycine at codon 2092 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of Timothy syndrome or long QT syndrome; however, its contribution to the development of CACNA1C-related neurodevelopmental disorder is uncertain.

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