ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del)

dbSNP: rs1572090368
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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 RCV000818759 SCV000959390 pathogenic Hereditary antithrombin deficiency 2018-08-12 criteria provided, single submitter clinical testing This variant, c.415_420delAAGTTT, results in the deletion of 2 amino acids of the SERPINC1 protein (p.Lys139_Phe140del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has been observed to segregate with antithrombin deficiency in several families (PMID: 8401542, 8486379). This variant is also known as delTTTAAG (del Phe106Lys107) and AT106-108(-6bp) in the literature. This variant is not present in population databases (ExAC no frequency).

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