ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter)

dbSNP: rs199750191
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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 RCV001267768 SCV003525870 pathogenic Combined immunodeficiency due to LRBA deficiency 2022-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg655*) 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). This variant is present in population databases (rs199750191, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autoimmune lymphoproliferative syndrome and/or lymphadenopathy (PMID: 26206937, 34573280). ClinVar contains an entry for this variant (Variation ID: 973645). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267768 SCV001424084 pathogenic Combined immunodeficiency due to LRBA deficiency 2020-05-21 no assertion criteria provided clinical testing

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