ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)

dbSNP: rs63749829
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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) RCV000075548 SCV000106544 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002415545 SCV002725296 pathogenic Hereditary cancer-predisposing syndrome 2022-06-10 criteria provided, single submitter clinical testing The p.E71* pathogenic mutation (also known as c.211G>T), located in coding exon 3 of the MLH1 gene, results from a G to T substitution at nucleotide position 211. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. In a study of 1,721 German probands suspected of HNPCC, this mutation was detected in one family (Mangold E et al. Int J Cancer, 2005 Sep;116:692-702). 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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