ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer)

dbSNP: rs587778958
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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) RCV000075421 SCV000106416 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002408587 SCV002719983 pathogenic Hereditary cancer-predisposing syndrome 2021-06-17 criteria provided, single submitter clinical testing The c.1913_1926dup14 pathogenic mutation, located in coding exon 17 of the MLH1 gene, results from a duplication of 14 nucleotides at nucleotide positions 1913 to 1926, causing a translational frameshift with a predicted alternate stop codon (p.I643Dfs*5). 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. RCV003451082 SCV004186303 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-24 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000202103 SCV000257073 likely pathogenic not provided no assertion criteria provided research

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