ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)

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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 RCV003638133 SCV004464002 pathogenic Hereditary antithrombin deficiency 2023-05-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SERPINC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala403Hisfs*5) in the SERPINC1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the SERPINC1 protein. This variant disrupts a region of the SERPINC1 protein in which other variant(s) (p.Gly456Arg) have been determined to be pathogenic (PMID: 8274732). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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