Total submissions: 2
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. |