Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001170937 | SCV001333588 | uncertain significance | Cardiomyopathy | 2022-10-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001324561 | SCV001515518 | uncertain significance | Dilated cardiomyopathy 1W | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365822 | SCV002659532 | uncertain significance | Cardiovascular phenotype | 2022-08-24 | criteria provided, single submitter | clinical testing | The p.A340V variant (also known as c.1019C>T), located in coding exon 8 of the VCL gene, results from a C to T substitution at nucleotide position 1019. The alanine at codon 340 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. 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. |