ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1749del (p.Phe583fs)

dbSNP: rs63750309
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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) RCV000075350 SCV000106344 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002399449 SCV002711618 pathogenic Hereditary cancer-predisposing syndrome 2017-02-22 criteria provided, single submitter clinical testing The c.1749delT pathogenic mutation, located in coding exon 16 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 1749, causing a translational frameshift with a predicted alternate stop codon (p.F583Lfs*8). This alteration has been reported in one patient from a German cohort who met Bethesda guidelines for hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome testing (Mangold E et al. Int. J. Cancer, 2005 Sep;116:692-702). 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.
Myriad Genetics, Inc. RCV003451061 SCV004189940 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-21 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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