Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010620 | SCV001170845 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-07-31 | criteria provided, single submitter | clinical testing | The p.L420R variant (also known as c.1259T>G), located in coding exon 13 of the MUTYH gene, results from a T to G substitution at nucleotide position 1259. The leucine at codon 420 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is 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. |