Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001035282 | SCV001198606 | uncertain significance | not provided | 2022-04-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 834568). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 529 of the MSH3 protein (p.Ser529Leu). |
| Ambry Genetics | RCV004030950 | SCV005018732 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-29 | criteria provided, single submitter | clinical testing | The p.S529L variant (also known as c.1586C>T), located in coding exon 11 of the MSH3 gene, results from a C to T substitution at nucleotide position 1586. The serine at codon 529 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |