ClinVar Miner

Submissions for variant NC_000019.10:g.41878996_41879009del

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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 RCV003055884 SCV003352115 pathogenic Agammaglobulinemia 3, autosomal recessive 2022-04-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CD79A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly29Valfs*25) in the CD79A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CD79A are known to be pathogenic (PMID: 10525050, 24481606).

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