ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter)

gnomAD frequency: 0.00001  dbSNP: rs1323561325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650417 SCV000772262 uncertain significance Combined immunodeficiency due to LRBA deficiency 2017-11-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 results in a premature translational stop signal in the LRBA gene (p.Trp2855*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 9 amino acids of the LRBA protein.
Blueprint Genetics RCV000788567 SCV000927722 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing

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