ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys)

dbSNP: rs2102773041
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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 RCV001951678 SCV002241096 uncertain significance Hereditary antithrombin deficiency 2020-11-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 variant has not been reported in the literature in individuals with SERPINC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with lysine at codon 444 of the SERPINC1 protein (p.Ile444Lys). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and lysine.

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