Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000528696 | SCV000646213 | uncertain significance | Multiple endocrine neoplasia type 4 | 2024-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 10 of the CDKN1B protein (p.Ser10Asn). This variant is not present in population databases (gnomAD no frequency). 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: 469019). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 | RCV001017897 | SCV001179061 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-10-18 | criteria provided, single submitter | clinical testing | The p.S10N variant (also known as c.29G>A), located in coding exon 1 of the CDKN1B gene, results from a G to A substitution at nucleotide position 29. The serine at codon 10 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Baylor Genetics | RCV000528696 | SCV004212413 | uncertain significance | Multiple endocrine neoplasia type 4 | 2024-03-21 | criteria provided, single submitter | clinical testing |