ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) (rs45517201)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000042431 SCV000967731 likely pathogenic Tuberous sclerosis syndrome 2018-04-06 criteria provided, single submitter clinical testing The p.Tyr568His variant in TSC2 has been reported in at least 4 individuals with tuberous sclerosis complex (TSC), including at least one de novo occurrence (Ne llist 2008, LOVD-TSC2 database- http://chromium.lovd.nl/LOVD2/TSC). This variant was absent from large population studies. In vitro functional studies provide s ome evidence that the p.Tyr568His variant may impact protein function by impairi ng TSC1-TSC2 binding (Nellist 2008). Additionally, computational prediction tool s and conservation analysis suggest that the p.Tyr598His variant may impact the protein. In summary, although additional studies are required to fully establish its clinical significance, the p.Tyr598His variant is likely pathogenic. ACMG/A MP Criteria applied (Richards 2015): PM2; PM6; PS3_Supporting; PP3; PS4_Moderate .
Tuberous sclerosis database (TSC2) RCV000042431 SCV000066222 not provided Tuberous sclerosis syndrome no assertion provided curation

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.