ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1379A>C (p.Glu460Ala) (rs202038499)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254663 SCV000149368 likely benign not specified 2018-02-19 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.
Ambry Genetics RCV000115459 SCV000184951 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,In silico models in agreement (benign),Other data supporting benign classification
Invitae RCV000524234 SCV000253132 likely benign not provided 2019-02-17 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000196112 SCV000266177 uncertain significance Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000254663 SCV000539651 uncertain significance not specified 2016-10-26 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: Variant has been reported in 2 individuals with CRC who were both compound het for other MSH2 frameshift variants that segregated in the family. It is not present in ExAC. Variant classified in ClinVar as Likely Benign by Ambry, GeneDx, Invitae, and as VUS by U Wash (1 star). Variant is in a poorly conserved region. MaxMAF = 0.04% in ExAC (high for disease prevalence).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254663 SCV000601353 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
Color RCV000115459 SCV000684741 likely benign Hereditary cancer-predisposing syndrome 2015-11-08 criteria provided, single submitter clinical testing
Counsyl RCV000662461 SCV000784942 likely benign Lynch syndrome II 2017-02-15 criteria provided, single submitter clinical testing

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