Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000204889 | SCV000261604 | uncertain significance | Familial melanoma | 2024-06-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 6 of the CDKN2A (p16INK4a) protein (p.Gly6Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKN2A (p16INK4a)-related conditions. ClinVar contains an entry for this variant (Variation ID: 220777). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 | RCV001013226 | SCV001173782 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-26 | criteria provided, single submitter | clinical testing | The p.G6V variant (also known as c.17G>T), located in coding exon 1 of the CDKN2A gene, results from a G to T substitution at nucleotide position 17. The glycine at codon 6 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not conserved on limited sequence alignment. 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. |
| Color Diagnostics, |
RCV001013226 | SCV001350134 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-12 | criteria provided, single submitter | clinical testing |