ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val)

dbSNP: rs587781782
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
Ambry Genetics RCV000130032 SCV000184858 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-23 criteria provided, single submitter clinical testing The p.A1108V variant (also known as c.3323C>T), located in coding exon 28 of the TSC2 gene, results from a C to T substitution at nucleotide position 3323. The alanine at codon 1108 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001087672 SCV000836431 likely benign Tuberous sclerosis 2 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000836828 SCV000978674 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001087672 SCV002039734 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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.