Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001020457 | SCV001181941 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-25 | criteria provided, single submitter | clinical testing | The p.S12G variant (also known as c.34A>G), located in coding exon 1 of the CDKN1B gene, results from an A to G substitution at nucleotide position 34. The serine at codon 12 is replaced by glycine, 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. |
Invitae | RCV001222278 | SCV001394372 | uncertain significance | Multiple endocrine neoplasia type 4 | 2019-08-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 12 of the CDKN1B protein (p.Ser12Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant has not been reported in the literature in individuals with CDKN1B-related conditions. 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 C0"). |