ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)

gnomAD frequency: 0.00001  dbSNP: rs878854077
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231211 SCV000285240 likely benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765262 SCV000896515 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011245 SCV001171544 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-31 criteria provided, single submitter clinical testing The p.R458Q variant (also known as c.1373G>A), located in coding exon 13 of the TSC2 gene, results from a G to A substitution at nucleotide position 1373. The arginine at codon 458 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been observed in one individual from a cohort of patients with Cowden/Cowden-like (CS/CS-like) and Bannayan-Riley-Ruvalcaba syndromes (BRRS) without PTEN mutations (Yehia L et al. PLoS Genet, 2018 04;14:e1007352). This amino acid position is highly 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 RCV001589172 SCV001822580 uncertain significance not provided 2021-04-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27994516)
Genome-Nilou Lab RCV000231211 SCV002039545 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000231211 SCV003821604 uncertain significance Tuberous sclerosis 2 2019-05-01 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.