ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2103+1G>T (rs267607888)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000446141 SCV000537620 pathogenic Hereditary cancer-predisposing syndrome 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000483619 SCV000568571 likely pathogenic not provided 2016-12-22 criteria provided, single submitter clinical testing This variant is denoted MLH1 c.2103+1G>T or IVS18+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 18 of the MLH1 gene. This variant destroys a canonical splice donor 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. The International Society for Gastrointestinal Hereditary Tumours Incorporated (InSiGHT) classifies this variant as likely pathogenic and this variant has been reported in at least two families with Lynch Syndrome (Domingo 2004, Thompson 2014, Zumstein 2016). Based on the currently available information, we consider MLH1 c.2103+1G>T to be a likely pathogenic variant.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075531 SCV000106528 likely pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical donor splice site

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