Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001175998 | SCV001339811 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-06 | criteria provided, single submitter | clinical testing | This missense variant replaces proline with serine at codon 202 of the MUTYH protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV001175998 | SCV002657798 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-01-10 | criteria provided, single submitter | clinical testing | The p.P202S variant (also known as c.604C>T), located in coding exon 8 of the MUTYH gene, results from a C to T substitution at nucleotide position 604. The proline at codon 202 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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. |