ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2040C>T (p.Cys680=) (rs63749867)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567661 SCV000662031 likely benign Hereditary cancer-predisposing syndrome 2015-05-20 criteria provided, single submitter clinical testing
Color RCV000567661 SCV000911179 likely benign Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing
Counsyl RCV000662499 SCV000785021 likely benign Lynch syndrome II 2017-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000420964 SCV000513633 likely benign not specified 2017-09-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075494 SCV000106490 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000541158 SCV000625118 likely benign Hereditary nonpolyposis colon cancer 2017-07-24 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000075494 SCV000887331 uncertain significance Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MLH1 NM_000249.3:c.2040C>T has a 20.4% probability of pathogenicity based on combining prior probability from public data with likelihood ratios of 0.16 and 1.56 to 1, generated from evidence of seeing this as a somatic mutation in independent tumors with and without loss of heterozygosity at the MLH1 locus. See Shirts et al 2018, PMID 29887214.

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