ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1444-2A>G (rs45517174)

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
Athena Diagnostics Inc RCV000201016 SCV000255874 pathogenic Tuberous sclerosis 2 2012-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000498319 SCV000589550 pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing The c.1444-2 A>G splice site variant in the TSC2 gene has been previously reported in multiple individuals with tuberous sclerosis complex (Jobert et al., 1997, Kwiatkowski et al., 2015). This variant has been reported as a de novo change in multiple unrelated patients with TSC in a well curated database (TSC2 LOVD). This pathogenic variant destroys the canonical splice acceptor site for intron 14, and is expected to cause abnormal gene splicing. Additionally, the c.1444-2 A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the c.1444-2 A>G is interpreted as a pathogenic variant, and it's presence is consistent with a diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000042895 SCV000066691 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.