Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000170756 | SCV000223309 | uncertain significance | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | The V1707A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, this variant has been reported in other individuals referred for inherited arrhythmia testing at GeneDx. The V1707A variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, the V1707A variant has been reported in 4/3,384 (0.1%) alleles from individuals of East Asian ancestry in the Exome Aggregation Consortium. The V1707A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time. |
| Labcorp Genetics |
RCV001086159 | SCV000627557 | likely benign | Long QT syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000763836 | SCV000894758 | uncertain significance | Timothy syndrome; Brugada syndrome 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002345572 | SCV002646526 | uncertain significance | Cardiovascular phenotype | 2018-01-30 | criteria provided, single submitter | clinical testing | The p.V1707A variant (also known as c.5120T>C), located in coding exon 42 of the CACNA1C gene, results from a T to C substitution at nucleotide position 5120. The valine at codon 1707 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |