ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)

gnomAD frequency: 0.00001  dbSNP: rs768704768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801304 SCV002047513 likely pathogenic Hereditary antithrombin deficiency 2021-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001801304 SCV005830981 pathogenic Hereditary antithrombin deficiency 2024-09-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 45 of the SERPINC1 protein (p.Arg45Trp). This variant is present in population databases (rs768704768, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of antithrombin deficiency (PMID: 22627591, 30721820, 34800304; internal data). ClinVar contains an entry for this variant (Variation ID: 1330272). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SERPINC1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001801304 SCV004099483 uncertain significance Hereditary antithrombin deficiency 2023-10-30 no assertion criteria provided clinical testing

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