ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)

dbSNP: rs63750663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075483 SCV000106479 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002415532 SCV002724314 pathogenic Hereditary cancer-predisposing syndrome 2019-02-23 criteria provided, single submitter clinical testing The p.E671* pathogenic mutation (also known as c.2011G>T), located in coding exon 18 of the MLH1 gene, results from a G to T substitution at nucleotide position 2011. This changes the amino acid from a glutamic acid to a stop codon within coding exon 18. 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.
Myriad Genetics, Inc. RCV003451094 SCV004188881 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Constitutional Genetics Lab, Leon Berard Cancer Center RCV001249947 SCV001423889 pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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