ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter)

gnomAD frequency: 0.00001  dbSNP: rs760342862
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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 RCV001383085 SCV001582106 pathogenic Combined immunodeficiency due to LRBA deficiency 2020-01-27 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 conditions. This variant is present in population databases (rs760342862, ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1994*) in the LRBA gene. It is expected to result in an absent or disrupted protein product.

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