Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010637 | SCV001170866 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-04 | criteria provided, single submitter | clinical testing | The p.S421I variant (also known as c.1262G>T), located in coding exon 12 of the MLH1 gene, results from a G to T substitution at nucleotide position 1262. The serine at codon 421 is replaced by isoleucine, an amino acid with dissimilar 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. |