ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.115G>C (p.Gly39Arg) (rs751838296)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459919 SCV000551191 likely benign not provided 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000481267 SCV000565207 uncertain significance not specified 2016-12-22 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.115G>C at the cDNA level, p.Gly39Arg (G39R) at the protein level, and results in the change of a Glycine to an Arginine (GGG>CGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Gly39Arg was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glycine and Arginine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Gly39Arg occurs at a position that is not conserved and is not located in a known functional domain (Terui 2013, UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether MSH6 Gly39Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000567789 SCV000662380 likely benign Hereditary cancer-predisposing syndrome 2019-02-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Counsyl RCV000663030 SCV000786063 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2018-02-14 criteria provided, single submitter clinical testing
Color RCV000567789 SCV000904011 likely benign Hereditary cancer-predisposing syndrome 2017-06-08 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.