ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5645+2T>A

gnomAD frequency: 0.00001  dbSNP: rs1181595292
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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 RCV000818893 SCV000959530 likely pathogenic Combined immunodeficiency due to LRBA deficiency 2021-03-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with LRBA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 35 of the LRBA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763).

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