ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)

dbSNP: rs118203690
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 RCV000642006 SCV000763659 likely benign Tuberous sclerosis 1 2025-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483037 SCV002780940 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2022-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298084 SCV003993293 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-15 criteria provided, single submitter clinical testing The p.I807T variant (also known as c.2420T>C), located in coding exon 17 of the TSC1 gene, results from a T to C substitution at nucleotide position 2420. The isoleucine at codon 807 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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.
Tuberous sclerosis database (TSC1) RCV000042203 SCV000065989 not provided Tuberous sclerosis syndrome no assertion provided curation

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.