Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076437 | SCV000107466 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV002426634 | SCV002727881 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-12 | criteria provided, single submitter | clinical testing | The p.L744* pathogenic mutation (also known as c.2231T>G), located in coding exon 14 of the MSH2 gene, results from a T to G substitution at nucleotide position 2231. This changes the amino acid from a leucine to a stop codon within coding exon 14. This mutation has been previously reported in a French patient with hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome (Parc Y et al. J. Med. Genet., 2003 Mar;40:208-13). This mutation was also seen in one patient with MSI-H colorectal cancer who met Amsterdam criteria (Bécouarn Y et al. Gastroenterol. Clin. Biol.;29:667-75). 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. |