ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter)

gnomAD frequency: 0.00001  dbSNP: rs1004337827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008000 SCV001167732 likely pathogenic not provided 2019-01-29 criteria provided, single submitter clinical testing The R2472X variant in the LRBA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2472X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R2472X as a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860584 SCV002236902 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 816968). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2472*) 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).

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