ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter)

dbSNP: rs1560938296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692077 SCV000819884 pathogenic Combined immunodeficiency due to LRBA deficiency 2019-10-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). This variant has not been reported in the literature in individuals with LRBA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu855*) in the LRBA gene. It is expected to result in an absent or disrupted protein product.

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