ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr)

gnomAD frequency: 0.00003  dbSNP: rs1057522800
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
GeneDx RCV000442144 SCV000529544 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing 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
Invitae RCV001088704 SCV000765801 likely benign Tuberous sclerosis 2 2023-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088704 SCV002040204 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328973 SCV002634195 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-11 criteria provided, single submitter clinical testing The p.P1517T variant (also known as c.4549C>A), located in coding exon 34 of the TSC2 gene, results from a C to A substitution at nucleotide position 4549. The proline at codon 1517 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly 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.

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.