ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1661_1662insGATA (p.Tyr554Ter)

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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 RCV002963068 SCV003289230 pathogenic Combined immunodeficiency due to LRBA deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr554*) 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 (rs748414191, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 2074822). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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