ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4765A>C (p.Thr1589Pro)

dbSNP: rs1348292126
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 RCV002318636 SCV000849881 uncertain significance Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing The p.T1532P variant (also known as c.4594A>C), located in coding exon 31 of the SZT2 gene, results from an A to C substitution at nucleotide position 4594. The threonine at codon 1532 is replaced by proline, 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. 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.