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
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
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.
Invitae RCV000679275 SCV000166254 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115482 SCV000186202 likely benign Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing 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
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)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000200983 SCV000592357 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679275 SCV000601399 benign not provided 2019-03-19 criteria provided, single submitter clinical testing
Color RCV000115482 SCV000684826 likely benign Hereditary cancer-predisposing syndrome 2015-06-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679275 SCV000805970 likely benign not provided 2017-11-13 criteria provided, single submitter clinical testing
OMIM RCV000018628 SCV000038911 risk factor Colorectal cancer, sporadic, susceptibility to 2004-07-01 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000200983 SCV000257098 uncertain significance not specified no assertion criteria provided research

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