ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr)

dbSNP: rs1590826571
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
Department of Immunology and Histocompatibility, University of Thessaly RCV000851273 SCV000993529 likely pathogenic Hereditary angioedema type 1 criteria provided, single submitter clinical testing The c.878T>C (p.Ile293Thr) variant has been previously reported in association with hereditary angioedema in the literature (Pappalardo et al, 2000, Speletas et al., 2015, Loules et al., 2018) and in HAE database (http://hae.enzim.hu/detail.php?id=43). It was detected by our laboratory in one male C1-INH HAE Type I patient. It has never been detected in approximately 120000 individuals of the Exome Aggregation Consortium (ExAC), indicating that it is not a common variant. Bioinformatic tools SIFT and PolyPhen2 predict this variant as deleterious and possibly damaging, respectively. Taking all the above into account and according to ACMG Guidelines (Criteria: PM2, PP2, PP3, PP4, PP5) the variant is considered likely pathogenic.

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.