Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060217 | SCV001224894 | uncertain significance | Familial adenomatous polyposis 2 | 2023-03-16 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Gly286 amino acid residue in MUTYH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17703316, 18422726, 25892863). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 855046). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is present in population databases (rs772540425, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 286 of the MUTYH protein (p.Gly286Arg). |