Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clingen Thrombosis Variant Curation Expert Panel, |
RCV000851915 | SCV004037390 | pathogenic | Hereditary antithrombin deficiency | 2023-09-21 | reviewed by expert panel | curation | The NM_000488.4(SERPINC1):c.953C>T variant predicts a Pro318Leu missense change. It is absent from gnomAD v2.1.1 and v3.1.2, meeting criteria for PM2_Supporting. It has a REVEL score of 0.956 and meets PP3 (threshold >0.6). At least 2 probands with AT deficiency (and repeat sampling) are reported in the literature (PP4) and 8 probands with AT deficiency and a positive family history are noted from internal VCEP data, meeting criteria for PS4_Very Strong. In summary, this variant meets criteria to be classified as pathogenic. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: PS4_Very Strong, PP3, PP4, PM2_Supporting. |
NIHR Bioresource Rare Diseases, |
RCV000851915 | SCV000899996 | likely pathogenic | Hereditary antithrombin deficiency | 2019-02-01 | criteria provided, single submitter | research | |
ISTH- |
RCV000851915 | SCV002499586 | likely pathogenic | Hereditary antithrombin deficiency | criteria provided, single submitter | clinical testing | ||
Mayo Clinic Laboratories, |
RCV004792443 | SCV005413983 | likely pathogenic | not provided | 2024-05-02 | criteria provided, single submitter | clinical testing | PP1, PP3, PP5, PM2_moderate, PS4_moderate |