ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)

dbSNP: rs34986638
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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) RCV000076471 SCV000107500 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV002453386 SCV002736032 pathogenic Hereditary cancer-predisposing syndrome 2021-07-12 criteria provided, single submitter clinical testing The p.E808* pathogenic mutation (also known as c.2422G>T), located in coding exon 14 of the MSH2 gene, results from a G to T substitution at nucleotide position 2422. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. This alteration was identified in an individual diagnosed with multiple colorectal polyps (Fearnhead NS et al. Proc Natl Acad Sci U S A, 2004 Nov;101:15992-7). Additionally, this alteration was identified in an individual meeting clinical criteria for Lynch Syndrome (Kurzawski G et al. Clin Genet, 2006 Jan;69:40-7). In addition to the clinical data presented in the literature, 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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