ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs)

dbSNP: rs137854393
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
Ambry Genetics RCV002453339 SCV002613499 pathogenic Hereditary cancer-predisposing syndrome 2017-07-21 criteria provided, single submitter clinical testing The c.3663_3664delGG pathogenic mutation, located in coding exon 30 of the TSC2 gene, results from a deletion of two nucleotides at nucleotide positions 3663 to 3664, causing a translational frameshift with a predicted alternate stop codon (p.D1222Hfs*11). This mutation was reported in an individual with a clinical diagnosis of tuberous sclerosis who did not have a known family history of tuberous sclerosis (Au KS et al. Genet. Med., 2007 Feb;9:88-100). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Tuberous sclerosis database (TSC2) RCV000042794 SCV000066590 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.