ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)

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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 RCV003448750 SCV004176434 likely pathogenic Combined immunodeficiency due to LRBA deficiency 2023-03-01 criteria provided, single submitter clinical testing The stop gained variant c.2197G>T (p.Glu733Ter) in the 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. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease-causing (Charbonnier et al., 2015). For these reasons, this variant has been classified as Likely Pathogenic.

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