Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001929398 | SCV002204905 | uncertain significance | Familial adenomatous polyposis 2 | 2023-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 155 of the MUTYH protein (p.Lys155Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1426427). 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. 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. |
| Ambry Genetics | RCV002334905 | SCV002638089 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-30 | criteria provided, single submitter | clinical testing | The p.K155N variant (also known as c.465G>T), located in coding exon 6 of the MUTYH gene, results from a G to T substitution at nucleotide position 465. The lysine at codon 155 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. 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. |
| Baylor Genetics | RCV001929398 | SCV004198816 | uncertain significance | Familial adenomatous polyposis 2 | 2023-10-17 | criteria provided, single submitter | clinical testing |