ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter)

gnomAD frequency: 0.00001  dbSNP: rs1268711491
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531598 SCV001746804 pathogenic not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873769 SCV002191832 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-10-24 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: 1176175). This premature translational stop signal has been observed in individual(s) with LRBA deficiency (PMID: 28473463, 31432443). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg2348*) 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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