Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002019913 | SCV002289247 | uncertain significance | Multiple endocrine neoplasia type 4 | 2021-01-11 | criteria provided, single submitter | clinical testing | 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with CDKN1B-related conditions. This sequence change replaces glutamine with proline at codon 57 of the CDKN1B protein (p.Gln57Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV004947024 | SCV005559258 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-12 | criteria provided, single submitter | clinical testing | The p.Q57P variant (also known as c.170A>C), located in coding exon 1 of the CDKN1B gene, results from an A to C substitution at nucleotide position 170. The glutamine at codon 57 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |