ClinVar Miner

Submissions for variant NC_000003.11:g.(?_9932387)_(9935081_?)dup

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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 RCV000708379 SCV000837489 uncertain significance Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 2018-03-15 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the JAGN1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Gross duplications have not been reported in the literature in individuals with JAGN1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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.

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