ClinVar Miner

Submissions for variant NC_000016.9:g.(?_30196531)_30199897del

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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 RCV001388032 SCV001588838 pathogenic Severe combined immunodeficiency due to CORO1A deficiency 2019-02-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CORO1A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with severe combined immunodeficiency (SCID) (PMID: 18836449). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Loss-of-function variants in CORO1A are known to be pathogenic (PMID: 18836449, 25073507). For these reasons, this variant has been classified as Pathogenic.

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