Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010559 | SCV001170780 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-07-26 | criteria provided, single submitter | clinical testing | The p.R417S variant (also known as c.1249C>A), located in coding exon 13 of the MUTYH gene, results from a C to A substitution at nucleotide position 1249. The arginine at codon 417 is replaced by serine, an amino acid with dissimilar 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. |