Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001026955 | SCV001189434 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-04-24 | criteria provided, single submitter | clinical testing | The p.G264V variant (also known as c.791G>T), located in coding exon 10 of the MUTYH gene, results from a G to T substitution at nucleotide position 791. The glycine at codon 264 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is poorly 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. |
| Labcorp Genetics |
RCV002524138 | SCV003000470 | uncertain significance | Familial adenomatous polyposis 2 | 2023-02-09 | criteria provided, single submitter | clinical testing | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 433933). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 264 of the MUTYH protein (p.Gly264Val). |
| Department of Pathology and Laboratory Medicine, |
RCV001356147 | SCV001551225 | uncertain significance | not provided | no assertion criteria provided | clinical testing |