ClinVar Miner

Submissions for variant NM_001354621.1(MLH1):c.-139-2735del (rs63750034)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075891 SCV000106907 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Integrated Genetics/Laboratory Corporation of America RCV000075891 SCV000917652 likely pathogenic Lynch syndrome 2018-06-05 criteria provided, single submitter clinical testing Variant summary: MLH1 c.860delA (p.Asn287ThrfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as likely pathogenic/pathogenic by our laboratory (eg. c.927dupC, 1210_1211delCT and c.1489dupC). The variant was absent in 246256 control chromosomes. To our knowledge, no occurrence of c.860delA in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014, but two locus specific databases cite the variant as "causative". Based on the evidence outlined above, the variant was classified as likely pathogenic.

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