ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter)

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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 RCV003527185 SCV004293833 pathogenic Hereditary antithrombin deficiency 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg391*) in the SERPINC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SERPINC1 are known to be pathogenic (PMID: 21264449). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with antithrombin deficiency (PMID: 8217824, 29153735). This variant is also known as 9819 C to T, 359 Arg to STOP. For these reasons, this variant has been classified as Pathogenic.

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