Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004058937 | SCV002699816 | uncertain significance | not specified | 2023-04-09 | criteria provided, single submitter | clinical testing | The p.N460K variant (also known as c.1380C>G), located in coding exon 1 of the MLH3 gene, results from a C to G substitution at nucleotide position 1380. The asparagine at codon 460 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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. |
Fulgent Genetics, |
RCV005008570 | SCV005635800 | uncertain significance | Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer | 2024-03-07 | criteria provided, single submitter | clinical testing |