ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)

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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 RCV002648224 SCV003523360 pathogenic Hereditary antithrombin deficiency 2022-10-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Thr10Asnfs*55) 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 type-I antithrombin deficiency (PMID: 16268490). This variant is also known as AT-Siriraj.

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