ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.116+1G>A (rs267607709)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075127 SCV000106118 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709737 SCV000840003 pathogenic Lynch syndrome II 2017-05-24 criteria provided, single submitter clinical testing This c.116+1G>A variant in the MLH1 gene has been reported in one patient with colorectal cancer diagnosed before 30 years of age [PMID 9718327]. This variant has not been observed in our patient database nor has been detected in the ExAC database. This variant was however reported in ClinVar and was classified as likely pathogenic in 2013 by an expert panel (SCV000106118.2). This variant affects the invariant donor splice site of intron 1 of the MLH1 gene. While not validated for clinical use, computer-based algorithms predict this c.116+1G>A change to disrupt the splice site. This variant is thus classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284001 SCV001469542 pathogenic not provided 2019-11-25 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Baylor Genetics RCV001294059 SCV001482844 pathogenic Turcot syndrome 2019-05-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 9718327]

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