ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) (rs55740729)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677891 SCV000804052 likely benign Malignant tumor of sigmoid colon 2017-05-15 no assertion criteria provided clinical testing
Ambry Genetics RCV000115430 SCV000184313 benign Hereditary cancer-predisposing syndrome 2015-06-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000115430 SCV000685486 benign Hereditary cancer-predisposing syndrome 2015-02-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121569 SCV000592669 benign not specified 2017-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000115430 SCV000149339 likely benign Hereditary cancer-predisposing syndrome 2014-10-07 criteria provided, single submitter clinical testing The variant is found in HEREDICANCER,BR-OV-HEREDIC,COLO-HEREDIC panel(s).
ITMI RCV000121569 SCV000085765 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000074986 SCV000430982 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587315 SCV000695913 benign not provided 2016-03-21 criteria provided, single submitter clinical testing Variant summary: The c.4068_4071dupGATT (legacy name c.4065_4066insTTGA) variant results in a termination codon only two amino acids before the normal stop codon, thus the mutated protein may still retain its function, which was supported by one functional study (Martinez_2010). One in-silico tool predicts damaging outcome for this variant. This variant is found in 272/8626 control chromosomes in East Asian population (5 homozygotes) at a frequency of 0.0315, which is about 221 times of the maximal expected frequency of a pathogenic allele (0.0001421), suggesting this variant is benign. In addition, multiple clinical laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant was classified as benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074986 SCV000108202 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1% in specific ethnic group
Invitae RCV000524205 SCV000262375 benign Hereditary nonpolyposis colon cancer 2018-01-12 criteria provided, single submitter clinical testing
Mendelics RCV000074986 SCV000837938 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000587315 SCV000805903 likely benign not provided 2017-03-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121569 SCV000601603 benign not specified 2017-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587315 SCV000888287 benign not provided 2017-03-01 criteria provided, single submitter 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.