ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.791-2A>T (rs267607794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573704 SCV000676032 likely pathogenic Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
GeneDx RCV000483260 SCV000567389 pathogenic not provided 2015-07-21 criteria provided, single submitter clinical testing This pathogenic variant is denoted MLH1 c.791-2A>T or IVS9-2A>T and consists of a A>T nucleotide substitution at the -2 position of intron 9 of the MLH1 gene. The 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 not, to our knowledge, been published in the literature. Based on the current evidence, we consider MLH1 c.791-2A>T to be pathogenic.

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