Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010190 | SCV001170347 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-17 | criteria provided, single submitter | clinical testing | The p.N394K variant (also known as c.1182C>G), located in coding exon 12 of the MUTYH gene, results from a C to G substitution at nucleotide position 1182. The asparagine at codon 394 is replaced by lysine, an amino acid with similar properties. This amino acid position is poorly 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. |