Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001054562 | SCV001218882 | uncertain significance | not provided | 2023-04-25 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 661 of the MSH3 protein (p.Ser661Phe). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 850403). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. |
| Ambry Genetics | RCV002416403 | SCV002719048 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | The p.S661F variant (also known as c.1982C>T), located in coding exon 14 of the MSH3 gene, results from a C to T substitution at nucleotide position 1982. The serine at codon 661 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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. |
| Baylor Genetics | RCV004570208 | SCV005053593 | uncertain significance | Endometrial carcinoma | 2024-03-08 | criteria provided, single submitter | clinical testing |