Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001232586 | SCV001405149 | uncertain significance | Familial adenomatous polyposis 2 | 2021-11-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 959270). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 362 of the MUTYH protein (p.Ala362Val). |
| Mendelics | RCV002249822 | SCV002518326 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002429993 | SCV002728657 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-31 | criteria provided, single submitter | clinical testing | The p.A362V variant (also known as c.1085C>T), located in coding exon 12 of the MUTYH gene, results from a C to T substitution at nucleotide position 1085. The alanine at codon 362 is replaced by valine, an amino acid with similar properties. This amino acid position is not well 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. |