ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter)

gnomAD frequency: 0.00003  dbSNP: rs770266168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027580 SCV001190155 uncertain significance Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001862407 SCV002137893 pathogenic Combined immunodeficiency due to LRBA deficiency 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg633*) in the LRBA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). This variant is present in population databases (rs770266168, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of LRBA deficiency (PMID: 32499645). ClinVar contains an entry for this variant (Variation ID: 827711). For these reasons, this variant has been classified as Pathogenic.

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