Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001016877 | SCV001177878 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-22 | criteria provided, single submitter | clinical testing | The p.F96S variant (also known as c.287T>C), located in coding exon 3 of the MUTYH gene, results from a T to C substitution at nucleotide position 287. The phenylalanine at codon 96 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV001860844 | SCV002271986 | uncertain significance | Familial adenomatous polyposis 2 | 2022-12-24 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. ClinVar contains an entry for this variant (Variation ID: 821944). This missense change has been observed in individual(s) with clinical features of MUTYH associated polyposis (PMID: 34704405). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 96 of the MUTYH protein (p.Phe96Ser). |