ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)

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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 RCV002572012 SCV002934307 pathogenic Hereditary antithrombin deficiency 2022-10-21 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 SERPINC1-related conditions (PMID: 21264449). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp81*) 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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