ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1277C>G (p.Ser426Trp)

dbSNP: rs121909550
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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 RCV001908898 SCV002169115 uncertain significance Hereditary antithrombin deficiency 2021-09-05 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. This variant disrupts the p.Ser426 amino acid residue in SERPINC1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2602168, 3512602, 3563966, 18954896, 20088933, 25298121). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with features of antithrombin III deficiency (PMID: 28174134, 29296762). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tryptophan at codon 426 of the SERPINC1 protein (p.Ser426Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan.

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