ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) (rs587778971)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075489 SCV000106485 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000075489 SCV000592435 pathogenic Lynch syndrome 2012-03-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507295 SCV000601382 likely pathogenic not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000529563 SCV000625117 pathogenic Hereditary nonpolyposis colon cancer 2017-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 679 (p.Glu679*) of the MLH1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001014093 SCV001174763 pathogenic Hereditary cancer-predisposing syndrome 2019-03-12 criteria provided, single submitter clinical testing

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