ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5470C>T (p.Arg1824Trp)

gnomAD frequency: 0.00005  dbSNP: rs374719524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332813 SCV001525236 uncertain significance Combined immunodeficiency due to LRBA deficiency 2019-12-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332813 SCV002197315 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1824 of the LRBA protein (p.Arg1824Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs374719524, ExAC 0.006%). 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: 1031078). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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