ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys)

gnomAD frequency: 0.00002  dbSNP: rs764695432
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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 RCV001319826 SCV001510586 uncertain significance Hereditary antithrombin deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 291 of the SERPINC1 protein (p.Arg291Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs764695432, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals affected with SERPINC1-related conditions. 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 tolerated. 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.

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