ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) (rs2020873)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000035352 SCV000604233 benign not specified 2017-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000157759 SCV000212715 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034546 SCV000043331 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Center for Human Genetics, Inc RCV000625495 SCV000781765 uncertain significance Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000157759 SCV000684802 benign Hereditary cancer-predisposing syndrome 2014-12-03 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035352 SCV000592442 likely benign not specified 2013-07-23 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030220 SCV000257652 likely benign Lynch syndrome 2015-02-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035352 SCV000110266 benign not specified 2013-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000035352 SCV000170301 benign not specified 2013-10-18 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625495 SCV000745683 benign Lynch syndrome II 2016-11-11 criteria provided, single submitter clinical testing
ITMI RCV000035352 SCV000085547 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000030220 SCV000443341 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030220 SCV000052887 benign Lynch syndrome 2011-10-26 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030220 SCV000106553 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524277 SCV000153886 benign Hereditary nonpolyposis colon cancer 2018-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035352 SCV000059000 benign not specified 2011-12-14 criteria provided, single submitter clinical testing The His718Tyr variant (rs2020873) in MLH1 is present in various populations at f requencies ranging from ~1% to ~16% and is more common individuals with African ancestry. In addition, this variant was reported in patient and control chromoso mes with equal frequncy (Barnetson 2008, Moussa 2011, Weber 1999). Finally, func tional studies have shown the His718Tyr has no discernbile impact on the functio n of the MMR complex (Martinez 2010, Kondo 2003). Therefore this variant is beni gn and not expected to have clinical significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035352 SCV000257088 likely benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144604 SCV000189931 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000035352 SCV000303149 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000157759 SCV000788023 benign Hereditary cancer-predisposing syndrome 2017-10-26 no assertion criteria provided clinical testing

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