ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu)

dbSNP: rs1460568494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen 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, University of Cambridge RCV000851915 SCV000899996 likely pathogenic Hereditary antithrombin deficiency 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000851915 SCV002499586 likely pathogenic Hereditary antithrombin deficiency criteria provided, single submitter clinical testing

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