ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1275T>C (p.Arg425=)

dbSNP: rs1227097057
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 RCV002145366 SCV005442759 uncertain significance Hereditary antithrombin deficiency 2024-10-02 reviewed by expert panel curation The c.1275T>C (NM_000488.4) variant in SERPINC1 does not code for a different amino acid (p.Arg425=). SpliceAI predicts no splicing impact for this variant meeting BP4. The variant is reported at a POPMAX FAF of 0.000008797 (1/113670) in the European population in gnomAD v2.1.1 which meets PM2_supporting criteria (MAF < 2.0 X 10-5 in gnomAD). In summary, based on the evidence available at this time, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BP4, PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV002145366 SCV002422989 likely benign Hereditary antithrombin deficiency 2021-08-01 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.