ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.778A>T (p.Lys260Ter)

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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 RCV003330340 SCV004037389 pathogenic Hereditary antithrombin deficiency 2023-09-21 reviewed by expert panel curation The c.778A>T, p.Lys260* (NM_000488.3) in SERPINC1 is a nonsense variant predicted to cause a premature stop codon at codon 260 in biologically-relevant exon 5/7 that leads to nonsense mediated decay (PVS1). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). This variant has been reported in 1 proband with antithrombin activity level of 48 meeting the SERPINC1-phenotypic criteria (AT level of <0.8 IU/mL, no repeat testing) (PS4_Supporting; Internal lab contributors). 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: PVS1, PM2_Supporting, PS4_Supporting.

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