ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs)

dbSNP: rs63750061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075480 SCV000106476 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000214195 SCV000275765 pathogenic Hereditary cancer-predisposing syndrome 2019-09-26 criteria provided, single submitter clinical testing The c.2006_2010delAAAAG pathogenic mutation, located in coding exon 18 of the MLH1 gene, results from a deletion of 5 nucleotides at nucleotide positions 2006 to 2010, causing a translational frameshift with a predicted alternate stop codon (p.E669Gfs*4). This alteration has been identified in a Japanese female with rectal cancer at age 40y as well as right sided MSI-H colon cancer at age 52y (Tomita N, et al. Jpn. J. Clin. Oncol. 2004 Sep; 34(9):556-60). 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. RCV003451093 SCV004189911 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 frameshift predicted to result in premature protein truncation.

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