ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) (rs368712041)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727389 SCV000531953 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TSC2 gene. The c.3918 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Several in-silico splice prediction models predict that c.3918 C>T creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727389 SCV000708131 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV001080132 SCV000765835 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717160 SCV000848008 likely benign History of neurodevelopmental disorder 2017-10-04 criteria provided, single submitter clinical testing RNA Studies;Synonymous alterations with insufficient evidence to classify as benign

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.