ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)

dbSNP: rs397514980
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000822193 SCV000962984 benign Tuberous sclerosis 2 2024-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001772137 SCV002003540 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000822193 SCV002040848 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332711 SCV002633966 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-20 criteria provided, single submitter clinical testing The p.R1570K variant (also known as c.4709G>A), located in coding exon 36 of the TSC2 gene, results from a G to A substitution at nucleotide position 4709. The arginine at codon 1570 is replaced by lysine, an amino acid with highly similar properties. This variant has been detected in multiple individuals with no reported features of TSC2-associated disease (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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.