Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001998317 | SCV002259847 | uncertain significance | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2022-05-22 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 62 of the VHL protein (p.Val62Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VHL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV002407231 | SCV002719606 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-26 | criteria provided, single submitter | clinical testing | The p.V62A variant (also known as c.185T>C), located in coding exon 1 of the VHL gene, results from a T to C substitution at nucleotide position 185. The valine at codon 62 is replaced by alanine, an amino acid with similar 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. |
| Baylor Genetics | RCV003471222 | SCV004208785 | uncertain significance | Chuvash polycythemia | 2023-05-05 | criteria provided, single submitter | clinical testing |