ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4823A>C (p.Tyr1608Ser)

dbSNP: rs759795928
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569255 SCV000675751 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-05 criteria provided, single submitter clinical testing The p.Y1608S variant (also known as c.4823A>C), located in coding exon 36 of the TSC2 gene, results from an A to C substitution at nucleotide position 4823. The tyrosine at codon 1608 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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.