Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001805637 | SCV002053621 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-02 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with arginine at codon 11 of the CDKN2A (p16INK4A) protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV001805637 | SCV005105382 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-11 | criteria provided, single submitter | clinical testing | The p.P11R variant (also known as c.32C>G), located in coding exon 1 of the CDKN2A gene, results from a C to G substitution at nucleotide position 32. The proline at codon 11 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |