ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.546-1G>A (rs587779022)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482173 SCV000568562 pathogenic not provided 2017-01-02 criteria provided, single submitter clinical testing This variant is denoted MLH1 c.546-1G>A or IVS6-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 6 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 at least one Lynch syndrome family (Domingo 2004). Based on the current evidence, we consider this variant to be pathogenic.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075754 SCV000106766 likely pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical acceptor splice site (splicing aberration not quantified)

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