ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.76A>G (p.Arg26Gly)

dbSNP: rs757622849
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000468207 SCV000551298 benign Hereditary nonpolyposis colorectal neoplasms 2024-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564743 SCV000662371 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-28 criteria provided, single submitter clinical testing The p.R26G variant (also known as c.76A>G), located in coding exon 1 of the MSH6 gene, results from an A to G substitution at nucleotide position 76. The arginine at codon 26 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568058 SCV005054911 uncertain significance Endometrial carcinoma 2024-02-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004806329 SCV005429185 likely benign Lynch syndrome 2024-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056025 SCV005726226 uncertain significance not specified 2024-11-16 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.