Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000824142 | SCV000965028 | uncertain significance | not provided | 2023-01-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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"). ClinVar contains an entry for this variant (Variation ID: 665786). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 470 of the MSH3 protein (p.Gln470Lys). |
| Ambry Genetics | RCV004639386 | SCV005141990 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-16 | criteria provided, single submitter | clinical testing | The p.Q470K variant (also known as c.1408C>A), located in coding exon 9 of the MSH3 gene, results from a C to A substitution at nucleotide position 1408. The glutamine at codon 470 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005047120 | SCV005666182 | uncertain significance | Endometrial carcinoma; Familial adenomatous polyposis 4 | 2024-04-29 | criteria provided, single submitter | clinical testing |