ClinVar Miner

Submissions for variant NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) (rs137854314)

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 RCV000190061 SCV000243736 pathogenic not provided 2013-06-18 criteria provided, single submitter clinical testing c.3401delG: p.Gly1134AlafsX57 (G1134AfsX57) in exon 30 of the TSC2 gene (NM_000548.3). Using lowercase to denote intronic nucleotides and uppercase to denote exonic nucleotides, the normal sequence with the base that is deleted in braces is: agGG{G}CCAT.The c.3401delG mutation in the TSC2 gene causes a frameshift starting with codon Glycine 1134, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 57 of the new reading frame, denoted p.Gly1134AlafsX57. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, it is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).
Athena Diagnostics Inc RCV000201003 SCV000255891 pathogenic Tuberous sclerosis 2 2012-06-28 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043342 SCV000067148 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.