ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.265_266delinsGC (p.Arg89Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Thrombosis Variant Curation Expert Panel, ClinGen RCV004577662 SCV005061630 uncertain significance Hereditary antithrombin deficiency 2024-01-25 reviewed by expert panel curation The NM_000488.4(SERPINC1):c.265_266delinsGC variant predicts a missense variant at position 89 from Arginine to Alanine. No patients with AT deficiency and the Arg89Ala variant have been described in the literature, to the best of our knowledge. This variant is completely absent from gnomAD v2.1.1 and v3.1.2. 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: PM2_Supporting.

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