Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001244527 | SCV001417753 | uncertain significance | Multiple endocrine neoplasia type 4 | 2021-06-22 | criteria provided, single submitter | clinical testing | 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"). This variant has not been reported in the literature in individuals with CDKN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 110 of the CDKN1B protein (p.Ser110Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. |
| Ambry Genetics | RCV004951429 | SCV005559230 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-16 | criteria provided, single submitter | clinical testing | The p.S110R variant (also known as c.330C>G), located in coding exon 1 of the CDKN1B gene, results from a C to G substitution at nucleotide position 330. The serine at codon 110 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |