ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3524C>G (p.Thr1175Ser) (rs369583604)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214931 SCV000278144 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneDx RCV000486443 SCV000566053 uncertain significance not provided 2015-03-25 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.3524C>G at the cDNA level, p.Thr1175Ser (T1175S) at the protein level, and results in the change of a Threonine to a Serine (ACT>AGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. MSH6 Thr1175Ser was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Since Threonine and Serine share similar properties, this is considered a conservative amino acid substitution. MSH6 Thr1175Ser occurs at a position that is conserved across species and is located in domain V of the MutS domain (Terui 2013). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether MSH6 Thr1175Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.
Mendelics RCV000708890 SCV000837917 uncertain significance Lynch syndrome 2018-07-02 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.