ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) (rs63750365)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000679266 SCV000884118 benign not provided 2018-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115456 SCV000184608 benign Hereditary cancer-predisposing syndrome 2015-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s),In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Other data supporting benign classification,Co-occurence with mutation in same gene (phase unknown)
CSER_CC_NCGL; University of Washington Medical Center RCV000148618 SCV000190333 uncertain significance Colorectal cancer, non-polyposis 2014-06-01 no assertion criteria provided research
Center for Human Genetics, Inc RCV000659870 SCV000781755 uncertain significance Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000115456 SCV000902604 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
Counsyl RCV000659870 SCV000786114 likely benign Lynch syndrome II 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000202064 SCV000149365 likely benign not specified 2017-12-14 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.
Genetic Services Laboratory, University of Chicago RCV000202064 SCV000595807 uncertain significance not specified 2017-03-10 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075170 SCV000106161 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524232 SCV000219061 benign Hereditary nonpolyposis colon cancer 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000202064 SCV000539641 uncertain significance not specified 2017-01-10 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: Two mammals and one non-mammal have a Thr at this position. It has a max MAF of 0.09% in gnomAD. It is reported in 7 papers in HGMD, classified as DM, most comments suggest VUS. It is classified in ClinVar with 3 stars as Benign by InSiGHT (expert panel) and Pathway genomics, and likely benign by GeneDx and Invitae, and as VUS by Mayo and CSER_CC_NCGL.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202064 SCV000257050 uncertain significance not specified no assertion criteria provided research
Pathway Genomics RCV000144611 SCV000189938 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000679266 SCV000805947 likely benign not provided 2017-04-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000202064 SCV000601351 uncertain significance not specified 2017-07-03 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000115456 SCV000788017 likely benign Hereditary cancer-predisposing syndrome 2017-08-30 no assertion criteria provided clinical testing

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