ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.37del (p.Glu13fs)

dbSNP: rs63750081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075678 SCV000106679 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002362708 SCV002625416 pathogenic Hereditary cancer-predisposing syndrome 2021-05-26 criteria provided, single submitter clinical testing The c.37delG pathogenic mutation, located in coding exon 1 of the MLH1 gene, results from a deletion of one nucleotide at nucleotide position 37, causing a translational frameshift with a predicted alternate stop codon (p.E13Rfs*4). This mutation has been reported in a Polish individual meeting Amsterdam II criteria (Jakubowska A et al. Hum Mutat, 2001;17:52-60; Kurzawski G et al. Clin Genet, 2006 Jan;69:40-7). 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.

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