ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.454C>G (p.His152Asp) (rs397515285)

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
Invitae RCV000465969 SCV000544390 benign Tuberous sclerosis 2 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575914 SCV000675521 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-04 criteria provided, single submitter clinical testing The p.H152D variant (also known as c.454C>G), located in coding exon 4 of the TSC2 gene, results from a C to G substitution at nucleotide position 454. The histidine at codon 152 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001557660 SCV001779458 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31623367, 23514105)
Tuberous sclerosis database (TSC2) RCV000055607 SCV000083832 not provided Autism spectrum disorder 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.