ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2253T>C (p.Asn751=) (rs2020913)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030262 SCV000107936 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030262 SCV000052929 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078310 SCV000110151 benign not specified 2013-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162399 SCV000212724 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000757473 SCV000262398 benign Hereditary nonpolyposis colorectal neoplasms 2020-12-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078310 SCV000302870 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625494 SCV000430970 benign Hereditary nonpolyposis colorectal cancer type 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Health, Inc RCV000162399 SCV000685270 benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625494 SCV000745651 benign Hereditary nonpolyposis colorectal cancer type 5 2016-04-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000078310 SCV000885715 benign not specified 2019-04-05 criteria provided, single submitter clinical testing
GeneDx RCV001618219 SCV001847613 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000078310 SCV000257221 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353756 SCV000592602 benign Carcinoma of colon no assertion criteria provided clinical testing The p.Asn751Asn variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice site. In addition, this variant has been identified in dbSNP (rs2020913) as a polymorphism at about 1% frequency in a Yoruban cohort and in the exome variant server at an elevated frequency (~6 %) in African American individuals. In summary, based on this information this variant is considered benign. (it should be noted that the individual identified by our laboratory was indicated as "Black")
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000078310 SCV001797583 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001618219 SCV001918509 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078310 SCV001958668 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.