ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.394G>C (p.Asp132His) (rs28930073)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115482 SCV000186202 likely benign Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Color RCV000115482 SCV000684826 likely benign Hereditary cancer-predisposing syndrome 2015-06-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000200983 SCV000592357 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000200983 SCV000149391 likely benign not specified 2017-12-12 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) RCV000075697 SCV000106701 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524297 SCV000166254 benign Hereditary nonpolyposis colon cancer 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000200983 SCV000539638 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported multiple times in HGMD, with conflicting evidence. A recent paper claims that it may be pathogenic (as predicted by a computational tool developed by the authors). The variant is classified in ClinVar as Benign by an expert panel (3 stars) in 2013 and as Likely benign by 3 additional submitters (GeneDx, Invitae, Ambry) in 2015/2016. MaxMAF is 0.06% in ExAC (high for disease prevalence)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000200983 SCV000257098 uncertain significance not specified no assertion criteria provided research
OMIM RCV000018628 SCV000038911 risk factor Colorectal cancer, sporadic, susceptibility to 2004-07-01 no assertion criteria provided literature only
PreventionGenetics RCV000679275 SCV000805970 likely benign not provided 2017-11-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000200983 SCV000601399 likely benign not specified 2017-04-12 criteria provided, single submitter clinical testing

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