Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591624 | SCV000707725 | uncertain significance | not provided | 2017-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000798962 | SCV000938606 | uncertain significance | Long QT syndrome | 2022-02-03 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 2113 of the CACNA1C protein (p.Asp2113Ala). 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: 501385). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV002368026 | SCV002661131 | uncertain significance | Cardiovascular phenotype | 2021-09-10 | criteria provided, single submitter | clinical testing | The p.D2113A variant (also known as c.6338A>C), located in coding exon 47 of the CACNA1C gene, results from an A to C substitution at nucleotide position 6338. The aspartic acid at codon 2113 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is not 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. |