ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2T>A (p.Met1Lys)

dbSNP: rs111052004
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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) RCV000075620 SCV000106622 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
Ambry Genetics RCV003362685 SCV004055634 pathogenic Hereditary cancer-predisposing syndrome 2023-06-30 criteria provided, single submitter clinical testing The p.M1? pathogenic mutation (also known as c.2T>A) is located in coding exon 1 of the MLH1 gene and results from a T to A substitution at nucleotide position 2. This alters the methionine residue at the initiation codon (ATG). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Sequence variations that modify the initiation codon are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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