ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.766del (p.Leu256fs)

dbSNP: rs1572088865
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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 RCV000799362 SCV000939021 pathogenic Hereditary antithrombin deficiency 2018-11-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SERPINC1 are known to be pathogenic (PMID: 21264449). This variant has not been reported in the literature in individuals with SERPINC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu256Cysfs*28) in the SERPINC1 gene. It is expected to result in an absent or disrupted protein product.

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