Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014607 | SCV001175334 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-08 | criteria provided, single submitter | clinical testing | The p.H718R variant (also known as c.2153A>G), located in coding exon 19 of the MLH1 gene, results from an A to G substitution at nucleotide position 2153. The histidine at codon 718 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |