ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.881G>A (p.Arg294His)

gnomAD frequency: 0.00001  dbSNP: rs587776397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV003330313 SCV004037400 likely benign Hereditary antithrombin deficiency 2023-07-25 reviewed by expert panel curation The variant is reported at the highest MAF of 0.00004412 (5/113318 alleles) in the non-Finnish European population, which does not meet criteria for PM2_Supporting. This variant has not been reported in the literature in association with autosomal dominant antithrombin III deficiency. The variant is reported in 2 individuals in internal cohort, with 1 reporting normal antithrombin levels meeting BS2_supporting. The variant has a REVEL score of 0.127, which does meet criteria for BP4 (SpliceAI and VarSEAK predicts no impact). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Thrombosis Variant Curation Expert Panel for SERPINC1: BS2_supporting, BP4.
Hubei Clinical and Research Center of Thrombosis and Hemostasis Institute of Hematology, Union Hospital RCV000144053 SCV000189124 not provided not provided no assertion provided not provided

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