ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.871dup (p.Leu291fs) (rs137854052)

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 RCV000043199 SCV000967771 pathogenic Tuberous sclerosis syndrome 2018-04-30 criteria provided, single submitter clinical testing The p.Leu291fs variant in TSC2 has been reported in 1 individual with tuberous s clerosis complex (TSC; Franz 2001, Dabora 2001), and was absent from large popul ation studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 291 and leads to a prematur e termination codon 47 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the TSC2 gene is an established disease mechanism in individuals with TSC. In summar y, this variant meets criteria to be classified as pathogenic for TSC in an auto somal dominant manner based upon the predicted impact on the protein and absence in the general population. ACMG/AMP Criteria applied: PVS1, PM2, PS4_Supporting .
Tuberous sclerosis database (TSC2) RCV000043199 SCV000067000 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.