Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075927 | SCV000106943 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002371911 | SCV002687208 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-18 | criteria provided, single submitter | clinical testing | The p.E297* pathogenic mutation (also known as c.889G>T), located in coding exon 11 of the MLH1 gene, results from a G to T substitution at nucleotide position 889. This changes the amino acid from a glutamic acid to a stop codon within coding exon 11. This alteration was reported in 1/75 French families with non-polyposis colorectal cancer in a family with three reported individuals with colorectal cancer, with the youngest diagnosed at age 30 (Wang Q et al. Hum. Genet.;105:79-85). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |