ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)

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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 RCV003526296 SCV004323205 uncertain significance Hereditary antithrombin deficiency 2023-09-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with SERPINC1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.50_52dup, results in the insertion of 1 amino acid(s) of the SERPINC1 protein (p.Tyr17_Leu18insHis), but otherwise preserves the integrity of the reading frame.

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