Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001360669 | SCV001556597 | uncertain significance | Familial adenomatous polyposis 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1052476). 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 tolerated. 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 151 of the MUTYH protein (p.Gly151Val). |
Ambry Genetics | RCV002341756 | SCV002637167 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-07-01 | criteria provided, single submitter | clinical testing | The p.G151V variant (also known as c.452G>T), located in coding exon 5 of the MUTYH gene, results from a G to T substitution at nucleotide position 452. The glycine at codon 151 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. |