ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1322T>C (p.Leu441Pro)

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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 RCV005198065 SCV005834280 pathogenic Hereditary antithrombin deficiency 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 441 of the SERPINC1 protein (p.Leu441Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with antithrombin deficiency (PMID: 12894857, 28300866, 36214221). This variant is also known as 13344T>C, L409P. 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%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on SERPINC1 function (PMID: 36214221). For these reasons, this variant has been classified as Pathogenic.

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