ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.106_107del (p.Ser36fs)

dbSNP: rs1590822296
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Immunology and Histocompatibility, University of Thessaly RCV000768688 SCV000900058 pathogenic Hereditary angioedema type 1 criteria provided, single submitter clinical testing The c.106_107delAG (p.Ser36Phefs*21) variant has been previously reported in association with hereditary angioedema in the literature (Verpy et al., 1996) and in HAE database (http://hae.enzim.hu/detail.php?id=17). It causes interruption of the reading frame by the formation of a termination codon (*21aa) which results in a truncated protein. It was detected by our laboratory in 1 male patient with C1-INH HAE Type I. It has never been detected in approximately 120000 individuals of the Exome Aggregation Consortium (ExAC), indicating that it is not a common variant. Taking all the above into account and according to ACMG Guidelines (Criteria: PVS1, PM2, PM4, PP4) the variant is considered pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005049683 SCV005683780 pathogenic Hereditary angioedema type 1; C1 inhibitor deficiency 2024-06-13 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.