ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)

dbSNP: rs1580875488
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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 RCV000803776 SCV000943662 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2789*) 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 not present in population databases (gnomAD no frequency). 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: 648944). For these reasons, this variant has been classified as Pathogenic.

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