ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=)

gnomAD frequency: 0.00001  dbSNP: rs773792958
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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 RCV002085194 SCV005442760 uncertain significance Hereditary antithrombin deficiency 2024-10-02 reviewed by expert panel curation The c.1278G>A (NM_000488.4) variant in SERPINC1 does not code for a different amino acid (p.Ser426=). SpliceAI predicts no splicing impact for this variant which suggests that the variant does not impact SERPINC1 function (BP4). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002085194 SCV002373469 likely benign Hereditary antithrombin deficiency 2021-07-03 criteria provided, single submitter clinical testing

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