ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) (rs761972717)

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
Invitae RCV000702693 SCV000831556 pathogenic Charcot-Marie-Tooth disease type 4 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1199*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs761972717, ExAC 0.01%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV001027478 SCV001190049 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided research

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.