ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys)

gnomAD frequency: 0.00001  dbSNP: rs1283948312
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002578 SCV001160551 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2019-05-18 criteria provided, single submitter clinical testing The PSTPIP1 c.739G>A; p.Glu247Lys variant (rs1283948312), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the general population in 1 out of 248008 alleles, indicating it is not a common polymorphism. The amino acid at this position is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Due to limited information, the clinical significance of the variant is uncertain at this time.

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.