ClinVar Miner

Submissions for variant NC_000004.11:g.(?_151719213)_(151749793_?)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 RCV004580782 SCV005064806 pathogenic Combined immunodeficiency due to LRBA deficiency 2023-02-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 30-34 of the LRBA gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). A similar copy number variant has been observed in individual(s) with clinical features of primary immunodeficiency (PMID: 32531373). For these reasons, this variant has been classified as Pathogenic.

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