ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter) (rs397514874)

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
GeneDx RCV000521121 SCV000620565 pathogenic not provided 2018-06-15 criteria provided, single submitter clinical testing The Q710X nonsense variant in the TSC1 gene was previously identified in a patient with tuberoussclerosis (LOVD TSC1 Database; Sancak et al., 2005). This pathogenic variant is predicted to causeloss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q710X variant is not observed in large population cohorts (Lek et al., 2016; 1000 GenomesConsortium et al., 2015; Exome Variant Server).
Tuberous sclerosis database (TSC1) RCV000055023 SCV000083241 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.