ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.191dup (p.Asn64fs)

dbSNP: rs63751255
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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) RCV000075427 SCV000106422 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Myriad Genetics, Inc. RCV003451084 SCV004189937 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004019102 SCV005033255 pathogenic Hereditary cancer-predisposing syndrome 2024-01-18 criteria provided, single submitter clinical testing The c.191dupA pathogenic mutation, located in coding exon 2 of the MLH1 gene, results from a duplication of A at nucleotide position 191, causing a translational frameshift with a predicted alternate stop codon (p.N64Kfs*15). 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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