Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001012380 | SCV001172820 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-20 | criteria provided, single submitter | clinical testing | The p.R534P variant (also known as c.1601G>C), located in coding exon 16 of the MUTYH gene, results from a G to C substitution at nucleotide position 1601. The arginine at codon 534 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not 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. |
| Invitae | RCV001344421 | SCV001538474 | uncertain significance | Familial adenomatous polyposis 2 | 2022-09-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 819646). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is present in population databases (rs3219497, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 534 of the MUTYH protein (p.Arg534Pro). |