ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)

gnomAD frequency: 0.00003  dbSNP: rs991714565
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
Invitae RCV000802473 SCV000942306 benign Tuberous sclerosis 2 2023-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013973 SCV001174622 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-21 criteria provided, single submitter clinical testing The p.S664F variant (also known as c.1991C>T), located in coding exon 18 of the TSC2 gene, results from a C to T substitution at nucleotide position 1991. The serine at codon 664 is replaced by phenylalanine, an amino acid with highly dissimilar 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.
Genome-Nilou Lab RCV000802473 SCV002040662 uncertain significance 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.