ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3156del (p.Asp1053fs)

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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 RCV002651853 SCV003525609 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1053Thrfs*2) 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 premature translational stop signal has been observed in individual(s) with neonatal diabetes and autoimmune lymphoproliferative syndrome (PMID: 28473463). For these reasons, this variant has been classified as Pathogenic.

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