ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.409-1G>T

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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 RCV003527191 SCV004293841 pathogenic Hereditary antithrombin deficiency 2022-12-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is also known as IVS2-1G>T. Disruption of this splice site has been observed in individual(s) with autosomal dominant antithrombin III deficiency (PMID: 15164384, 30046692). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 2 of the SERPINC1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SERPINC1 are known to be pathogenic (PMID: 21264449).

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