ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2002T>C (p.Ser668Pro) (rs876661080)

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
GeneDx RCV000219193 SCV000279470 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.2002T>C at the cDNA level, p.Ser668Pro (S668P) at the protein level, and results in the change of a Serine to a Proline (TCC>CCC). This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. MSH6 Ser668Pro 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 Serine and Proline differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. MSH6 Ser668Pro occurs at a position that is not conserved and is located in MutS domain II (Terui 2013). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether MSH6 Ser668Pro is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000562974 SCV000662551 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.