ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)

gnomAD frequency: 0.00001  dbSNP: rs780981335
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810880 SCV000951117 benign Tuberous sclerosis 2 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001759564 SCV001997687 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported previously in a large autism susceptibility study as a presumed benign variant, identified both in individuals with autism and the control population. No additional clinical information was provided (Kelleher et al., 2012); This variant is associated with the following publications: (PMID: 22558107)
Genome-Nilou Lab RCV000810880 SCV002040733 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440748 SCV002748378 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-21 criteria provided, single submitter clinical testing The p.E973K variant (also known as c.2917G>A), located in coding exon 25 of the TSC2 gene, results from a G to A substitution at nucleotide position 2917. The glutamic acid at codon 973 is replaced by lysine, an amino acid with similar properties. This alteration was detected in a population of 290 individuals with non-syndromic autism as well as a population of 300 matched controls (Kelleher RJ et al. PLoS ONE, 2012 Apr;7:e35003). 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.
Fulgent Genetics, Fulgent Genetics RCV002507412 SCV002816515 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-05-04 criteria provided, single submitter clinical testing

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.