ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6551+1del

dbSNP: rs1320366310
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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 RCV001953782 SCV002247229 pathogenic Combined immunodeficiency due to LRBA deficiency 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (Splice site) 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 (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. This variant is also known as c.6584+1del. ClinVar contains an entry for this variant (Variation ID: 1457482). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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