ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.481+1G>T (rs45488500)

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 RCV000042581 SCV000966992 pathogenic Tuberous sclerosis syndrome 2018-06-15 criteria provided, single submitter clinical testing The c.481+1G>T variant in TSC2 has been reported in 1 individual with tuberous s clerosis complex (TSC; Choy 2009) and was absent from large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus se quence and is predicted to cause altered splicing leading to an abnormal or abse nt protein. Heterozygous loss of function of the TSC2 gene is an established dis ease mechanism in individuals with TSC. In summary, this variant meets criteria to be classified as pathogenic for TSC in an autosomal dominant manner based upo n the predicted impact on the protein and absence in the general population. ACM G/AMP criteria applied: PVS1, PM2, PS4_Supporting.
Tuberous sclerosis database (TSC2) RCV000042581 SCV000066375 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.