Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002740456 | SCV002999969 | uncertain significance | Dilated cardiomyopathy 1W | 2022-06-09 | 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with VCL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 626 of the VCL protein (p.Phe626Ser). |
| Ambry Genetics | RCV003273995 | SCV004008584 | uncertain significance | Cardiovascular phenotype | 2023-04-07 | criteria provided, single submitter | clinical testing | The p.F626S variant (also known as c.1877T>C), located in coding exon 14 of the VCL gene, results from a T to C substitution at nucleotide position 1877. The phenylalanine at codon 626 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |