ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter)

dbSNP: rs1588299158
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826206 SCV000967765 pathogenic Tuberous sclerosis syndrome 2018-04-27 criteria provided, single submitter clinical testing The p.Lys816X variant in TSC1 has been reported in one individual with tuberous sclerosis complex (TSC) in the tuberous sclerosis LOVD database (http://chromiu and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 816, which is predicted to lead to a truncated or absent protein. Heterozygous loss of func tion of the TSC1 gene is an established disease mechanism in individuals with TS C. In summary, this variant meets criteria to be classified as pathogenic for tu berous sclerosis complex in an autosomal dominant manner based upon predicted im pact on the protein and absence in the general population. ACMG/AMP Criteria app lied: PVS1, PM2, PS4_Supporting.

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.