ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5921+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337976 SCV004048453 likely pathogenic Combined immunodeficiency due to LRBA deficiency criteria provided, single submitter clinical testing The splice donor variant c.5921+1G>A in LRBA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Null variant (within ±2 of splice site), in gene LRBA for which loss-of-function is a known mechanism of disease. The nucleotide change in LRBA is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic. The above variant is present in heterozygous state and hence the molecular diagnosis is not confirmed.

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