Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002336575 | SCV002645239 | uncertain significance | Cardiovascular phenotype | 2021-06-23 | criteria provided, single submitter | clinical testing | The p.R1715W variant (also known as c.5143C>T), located in coding exon 42 of the CACNA1C gene, results from a C to T substitution at nucleotide position 5143. The arginine at codon 1715 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV002515534 | SCV003504042 | uncertain significance | Long QT syndrome | 2021-12-01 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 221325). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1715 of the CACNA1C protein (p.Arg1715Trp). |
| Next Generation Diagnostics, |
RCV000207315 | SCV000258672 | uncertain significance | Breast ductal adenocarcinoma | 2015-07-20 | no assertion criteria provided | research |