ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2191A>C (p.Lys731Gln)

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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 RCV003448751 SCV004176436 uncertain significance Combined immunodeficiency due to LRBA deficiency 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.2191A>C (p.Lys731Gln) in LRBA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Lysine at position 731 is changed to a Glutamine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Lys731Gln in LRBA is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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