ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4186C>G (p.Gln1396Glu)

gnomAD frequency: 0.00001  dbSNP: rs760112656
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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 RCV001210942 SCV001382458 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-06-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1396 of the LRBA protein (p.Gln1396Glu). This variant is present in population databases (rs760112656, gnomAD 0.002%). This missense change has been observed in individual(s) with pars planitis (PMID: 32707200). ClinVar contains an entry for this variant (Variation ID: 941205). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV001210942 SCV004041524 uncertain significance Combined immunodeficiency due to LRBA deficiency 2023-03-20 criteria provided, single submitter clinical testing

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