ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)

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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 RCV003527187 SCV004293836 pathogenic Hereditary antithrombin deficiency 2023-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of antithrombin III deficiency (PMID: 24684277). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln337*) 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).

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