ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.580A>C (p.Ser194Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003527189 SCV004293838 likely pathogenic Hereditary antithrombin deficiency 2023-07-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SERPINC1 protein function. This missense change has been observed in individual(s) with antithrombin deficiency (PMID: 21264449, 22627591; Invitae). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 194 of the SERPINC1 protein (p.Ser194Arg).

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