ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3722G>A (p.Cys1241Tyr) (rs1021631442)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491034 SCV000580239 uncertain significance Hereditary cancer-predisposing syndrome 2014-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
University of Washington Department of Laboratory Medicine,University of Washington RCV000664316 SCV000788252 likely pathogenic Lynch syndrome 2018-02-07 criteria provided, single submitter clinical testing The MSH6 p.C1241Y variant has has been reported once in a woman with ovarian cancer (Pal 2012). The variant occurs at a position that is evolutionarily conserved. Testing performed on tumor tissue of a patient with constitutional MSH6 p.C1241Y variant supports that this variant is likely pathogenic. Specifically, in the patient's tumor the constitutional MSH6 variant was seen with a single somatic mutation at heterozygous freqency in MSH6 in the tumor, without evidence of loss of heterozygosity at MSH6 .

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.