Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001062808 | SCV001227631 | uncertain significance | Multiple endocrine neoplasia type 4 | 2024-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 177 of the CDKN1B protein (p.Gly177Ser). This variant is present in population databases (rs529949605, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 857183). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV002348451 | SCV002644849 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-03-26 | criteria provided, single submitter | clinical testing | The p.G177S variant (also known as c.529G>A), located in coding exon 2 of the CDKN1B gene, results from a G to A substitution at nucleotide position 529. The glycine at codon 177 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |