ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.307-1G>C (rs267607736)

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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) RCV000075641 SCV000106648 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
GeneDx RCV000478493 SCV000568564 pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing This variant is denoted MLH1 c.307-1G>C or IVS3-1G>C and consists of a G>C nucleotide substitution at the -1 position of intron 3 of the MLH1 gene. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported in an individual with colon cancer and a family history of colon cancer (Isidro 2003). Based on the current evidence, we consider this variant to be pathogenic.

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