ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter)

dbSNP: rs1560914625
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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 RCV000696141 SCV000824689 pathogenic Combined immunodeficiency due to LRBA deficiency 2020-06-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). This variant has been reported as homozygous in an individual affected with clinical features of LRBA-related disease (PMID: 28473463). ClinVar contains an entry for this variant (Variation ID: 574254). This sequence change creates a premature translational stop signal (p.Arg1271*) in the LRBA gene. It is expected to result in an absent or disrupted protein product.

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