ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1974G>A (p.Val658=) (rs372916347)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212655 SCV000211285 uncertain significance not provided 2018-01-05 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.1974G>A at the DNA level. Although the variant is silent at the coding level, preserving a Valine at codon 658, multiple splicing models predict the creation of a novel cryptic splice site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 c.1974G>A was not observed at a significant allele frequency in large population cohorts (Lek 2016). The nucleotide which is altered, a guanine (G) at base 1974, is conserved in mammals. Based on currently available evidence, it is unclear whether MSH6 c.1974G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000160674 SCV000214052 likely benign Hereditary cancer-predisposing syndrome 2014-09-08 criteria provided, single submitter clinical testing
Invitae RCV000206512 SCV000262029 likely benign Hereditary nonpolyposis colon cancer 2017-10-02 criteria provided, single submitter clinical testing
Color RCV000160674 SCV000910933 likely benign Hereditary cancer-predisposing syndrome 2016-01-25 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.