ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3286_3287del (p.Phe1096fs)

dbSNP: rs1750723817
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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 RCV001203869 SCV001375048 pathogenic Combined immunodeficiency due to LRBA deficiency 2019-08-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1096Leufs*3) in the LRBA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LRBA-related conditions. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). For these reasons, this variant has been classified as Pathogenic.

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