ClinVar Miner

Submissions for variant NC_000004.12:g.(?_150735238)_(150929085_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805295 SCV000945246 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-36 of the LRBA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with LRBA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the LRBA protein in which other variant(s) (p.Arg1445Gln) have been observed in individuals with LRBA-related conditions (PMID: 26768763). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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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