ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2722_2738del (p.Gly908fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002863693 SCV003232551 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-09-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LRBA-related conditions. This sequence change creates a premature translational stop signal (p.Gly908Argfs*13) 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).

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