ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)

dbSNP: rs63750736
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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) 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.

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