ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2954A>G (p.His985Arg)

gnomAD frequency: 0.00001  dbSNP: rs1330306605
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 RCV000696995 SCV000825582 benign Tuberous sclerosis 2 2023-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017661 SCV001178779 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-04 criteria provided, single submitter clinical testing The p.H985R variant (also known as c.2954A>G), located in coding exon 25 of the TSC2 gene, results from an A to G substitution at nucleotide position 2954. The histidine at codon 985 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000696995 SCV002040737 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003320729 SCV004025428 uncertain significance not provided 2024-05-16 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

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.