ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter)

dbSNP: rs199469662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000029135 SCV002240917 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-06-20 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: 35456). This premature translational stop signal has been observed in individual(s) with LRBA deficiency (PMID: 22608502). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1683*) 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).
OMIM RCV000029135 SCV000050585 pathogenic Combined immunodeficiency due to LRBA deficiency 2012-06-08 no assertion criteria provided literature only

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