ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.642C>T (p.Tyr214=) (rs1800937)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030277 SCV000108237 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 RCV000030277 SCV000052944 benign Lynch syndrome 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035327 SCV000058975 benign not specified 2011-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035327 SCV000110163 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132355 SCV000187444 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.
Color Health, Inc RCV000132355 SCV000292091 benign Hereditary cancer-predisposing syndrome 2014-11-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035327 SCV000302882 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605855 SCV000430954 benign Hereditary nonpolyposis colorectal cancer type 5 2018-03-06 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282863 SCV000604266 benign none provided 2020-08-21 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605855 SCV000744288 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000860472 SCV001000531 benign Hereditary nonpolyposis colorectal neoplasms 2020-12-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000035327 SCV000257304 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353937 SCV000592571 benign Carcinoma of colon no assertion criteria provided clinical testing The p.Tyr214Tyr variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It is listed in dbSNP database as coming from a "clinical source" (ID#: rs1800937) with a global minor allele frequency (MAF) of 0.050, being identified in varying frequencies in various ethnic groups from the HapMap project. It has been reported in the literature in 69/1520 proband chromosomes of individuals from HNPCC and HNPCC-like families, as well as in breast cancer families with colorectal and/ or endometrial cancer. It was also reported in 22/1336 control chromosomes evaluated (Charames_2000_11153917, de Abajo_2005_16270383, Dovrat_2005_16341805, Hendriks_2003_12547705, Kolodner_1999_10537275, Perez-Cabornero_2009_19250818, Peterlongo_2003_14520694, Plaschke_2000_10699937, Vahteristo_2005_15805151, Verma_1999_10507723). In addition, the variant was also identified in the UMD database (x66) as a neutral alteration, as well as in the InSiGHT and Exome Server databases. In summary, based on the above information, this variant is classified as Benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605855 SCV000734211 benign Hereditary nonpolyposis colorectal cancer type 5 no assertion criteria provided clinical testing
True Health Diagnostics RCV000132355 SCV000788057 benign Hereditary cancer-predisposing syndrome 2018-02-27 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.