ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6859A>G (p.Lys2287Glu)

gnomAD frequency: 0.00001  dbSNP: rs950337550
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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 RCV001214121 SCV001385787 uncertain significance Combined immunodeficiency due to LRBA deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 2298 of the LRBA protein (p.Lys2298Glu). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 943847). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LRBA protein function. 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.
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001214121 SCV001424088 uncertain significance Combined immunodeficiency due to LRBA deficiency 2020-05-21 no assertion criteria provided clinical testing

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