ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) (rs63749995)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000075523 SCV000696144 likely pathogenic Lynch syndrome 2016-10-27 criteria provided, single submitter clinical testing Variant summary: The MLH1 c.2084C>A (p.Ser695X) variant results in a premature termination codon, predicted to cause a truncated or absent MLH1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.: p.Trp714X, p.His727fsX55). Mutation taster predicts a damaging outcome for this variant. This variant is absent in 120582 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075523 SCV000106519 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon

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