ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2231T>G (p.Leu744Ter)

dbSNP: rs63750403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 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.

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