ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.142C>G (p.Leu48Val)

dbSNP: rs1486839704
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043372 SCV002301390 benign Tuberous sclerosis 2 2024-09-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003471266 SCV004206817 uncertain significance Isolated focal cortical dysplasia type II 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004947044 SCV005523407 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-15 criteria provided, single submitter clinical testing The p.L48V variant (also known as c.142C>G), located in coding exon 2 of the TSC2 gene, results from a C to G substitution at nucleotide position 142. The leucine at codon 48 is replaced by valine, 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. 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.