ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4316del (p.Gly1439fs)

dbSNP: rs137853988
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485831 SCV000566402 pathogenic not provided 2015-04-27 criteria provided, single submitter clinical testing The c.4316delG variant in the TSC2 gene has been reported previously in association with tuberoussclerosis (TSC2 LOVD). The deletion causes a frameshift starting with codon Glycine 1439, changes thisamino acid to a Alanine residue and creates a premature Stop codon at position 37 of thenew reading frame, denoted p.Gly1439AlafsX37. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret this variant as pathogenic.
Invitae RCV001853096 SCV002234229 pathogenic Tuberous sclerosis 2 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 65273). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1439Alafs*37) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).
Tuberous sclerosis database (TSC2) RCV000055494 SCV000083716 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.