ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp)

gnomAD frequency: 0.00066  dbSNP: rs143351602
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688841 SCV000816465 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2825 of the LRBA protein (p.Arg2825Trp). This variant is present in population databases (rs143351602, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 568471). 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 disruptive. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000688841 SCV003920155 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-03-30 criteria provided, single submitter clinical testing LRBA NM_006726.4 exon 57 p.Arg2825Trp (c.8473C>T): This variant has not been reported in the literature but is present in 0.1% (45/24964) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/4-151199033-G-A). This variant is present in ClinVar (Variation ID:568471). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV003332230 SCV004040112 uncertain significance not provided 2023-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35753512, 34329649)

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