ClinVar Miner

Submissions for variant NC_000007.14:g.(?_2906618)_(2917405_?)del

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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 RCV001031755 SCV001195061 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-11-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 20-25 of the CARD11 gene. The 5' boundary is likely confined to intron 19. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with CARD11-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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