ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter)

dbSNP: rs2102789590
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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 RCV001984533 SCV002208220 pathogenic Hereditary antithrombin deficiency 2021-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with antithrombin III deficiency (PMID: 27838551). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys127*) 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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