ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1224del (p.Phe408fs)

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 RCV002362022 SCV002658225 pathogenic Hereditary cancer-predisposing syndrome 2017-12-28 criteria provided, single submitter clinical testing The c.1224delT pathogenic mutation, located in coding exon 11 of the TSC2 gene, results from a deletion of one nucleotide at nucleotide position 1224, causing a translational frameshift with a predicted alternate stop codon (p.F408Lfs*17). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003776272 SCV004697349 pathogenic Tuberous sclerosis syndrome 2024-02-21 criteria provided, single submitter clinical testing

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.