ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter)

gnomAD frequency: 0.00001  dbSNP: rs1206185362
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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 RCV000998301 SCV001154290 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001041360 SCV001204971 pathogenic Combined immunodeficiency due to LRBA deficiency 2023-07-24 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: 809688). This premature translational stop signal has been observed in individual(s) with common variable immunodeficiency (PMID: 29867916). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg2214*) 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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