Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001248321 | SCV001421794 | uncertain significance | Multiple endocrine neoplasia type 4 | 2022-11-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 52 of the CDKN1B protein (p.Met52Val). ClinVar contains an entry for this variant (Variation ID: 972320). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). |
| Ambry Genetics | RCV003294157 | SCV004004493 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-11 | criteria provided, single submitter | clinical testing | The p.M52V variant (also known as c.154A>G), located in coding exon 1 of the CDKN1B gene, results from an A to G substitution at nucleotide position 154. The methionine at codon 52 is replaced by valine, an amino acid with highly 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. |