ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)

dbSNP: rs121909569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000019655 SCV002790190 likely pathogenic Hereditary antithrombin deficiency 2022-02-08 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000019655 SCV005417487 likely pathogenic Hereditary antithrombin deficiency criteria provided, single submitter clinical testing PM2_Supporting+PP3+PS4_Moderate+PP4_Moderate
Labcorp Genetics (formerly Invitae), Labcorp RCV000019655 SCV005816757 pathogenic Hereditary antithrombin deficiency 2024-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 148 of the SERPINC1 protein (p.Ser148Pro). This variant is present in population databases (rs121909569, gnomAD 0.02%). This missense change has been observed in individual(s) with antithrombin III deficiency (PMID: 24613695, 35720094; internal data). This variant is also known as p.Ser116Pro. ClinVar contains an entry for this variant (Variation ID: 18039). 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 not expected to disrupt SERPINC1 protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019655 SCV000039953 pathogenic Hereditary antithrombin deficiency 1993-03-01 no assertion criteria provided literature only

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