ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1060del (p.Arg354fs)

dbSNP: rs863224495
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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 RCV000197842 SCV000253840 pathogenic Hereditary antithrombin deficiency 2015-07-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in SERPINC1 are known to be pathogenic (PMID: 21264449). This sequence change deletes 1 nucleotide from exon 5 of the SERPINC1 mRNA (c.1060delC), causing a frameshift at codon 354. This creates a premature translational stop signal (p.Arg354Alafs*10) and is expected to result in an absent or disrupted protein product.

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