Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011196 | SCV001171490 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-12 | criteria provided, single submitter | clinical testing | The p.Y456C variant (also known as c.1367A>G), located in coding exon 14 of the MUTYH gene, results from an A to G substitution at nucleotide position 1367. The tyrosine at codon 456 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice donor site; however, direct evidence is unavailable. 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. |