ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)

dbSNP: rs2526543302
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
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV002463182 SCV005442764 uncertain significance Hereditary antithrombin deficiency 2024-12-20 reviewed by expert panel curation The c.1247dup (p.Ser417LysfsTer?) variant in SERPINC1 is a frameshift variant that may cause loss of function of the protein, however it is predicted to escape nonsense mediated decay and remove <10% of the protein (PVS1_Moderate). This variant has been reported in at least one family meeting an antithrombin activity level of < 0.8 IU/mL and a family history of the disease with reported antithrombin levels (PS4_Supporting; PMID: 38347553). More affected individuals without the details required for scoring were reported in ClinVar (SCV002520629.1). This variant is absent from gnomAD v4.1.0 (PM2_Supporting). In summary, this variant meets the criteria to be classified as uncertain significance due to insufficient evidence for autosomal dominant hereditary antithrombin deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen Thrombosis VCEP: PVS1_moderate, PM2_supporting, PS4_supporting.
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen RCV002463182 SCV002520629 likely pathogenic Hereditary antithrombin deficiency 2022-04-14 no assertion criteria provided 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.