Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000483676 | SCV000573423 | uncertain significance | not provided | 2017-02-16 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the CACNA1C gene. The A154T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A154T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where only amino acids with similar properties to Alanine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
| Ambry Genetics | RCV002318583 | SCV000849748 | uncertain significance | Cardiovascular phenotype | 2017-05-31 | criteria provided, single submitter | clinical testing | The p.A154T variant (also known as c.460G>A), located in coding exon 3 of the CACNA1C gene, results from a G to A substitution at nucleotide position 460. The alanine at codon 154 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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 | RCV001047449 | SCV001211411 | likely benign | Long QT syndrome | 2023-05-15 | criteria provided, single submitter | clinical testing |