ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.959_965del (p.Leu320fs)

dbSNP: rs1588324615
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 RCV000826207 SCV000967766 pathogenic Tuberous sclerosis syndrome 2018-04-27 criteria provided, single submitter clinical testing The p.Leu320fs variant in TSC1 has been reported in one individual with tuberous sclerosis complex (TSC; Tuberous sclerosis LOVD database: http://chromium.lovd. nl/LOVD2/TSC/) and was absent from population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 320 and leads to a premature termination codon 9 amino acids downst ream. This alteration is then predicted to lead to a truncated or absent protein . Heterozygous loss of function of the TSC1 gene is an established disease mecha nism in individuals with TSC. In summary, this variant meets criteria to be clas sified as pathogenic for TSC in an autosomal dominant manner based upon the pred icted impact on the protein and absence in controls. ACMG/AMP Criteria applied: 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.