ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.782A>G (p.Lys261Arg)

gnomAD frequency: 0.00002  dbSNP: rs375175981
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762142 SCV000892404 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855710 SCV002254589 uncertain significance Combined immunodeficiency due to LRBA deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 261 of the LRBA protein (p.Lys261Arg). This variant is present in population databases (rs375175981, gnomAD 0.01%). 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: 624048). 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 expected to disrupt LRBA protein function with a positive predictive value of 80%. 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 RCV001855710 SCV004183464 uncertain significance Combined immunodeficiency due to LRBA deficiency 2024-03-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000762142 SCV005410614 uncertain significance not provided 2024-08-28 criteria provided, single submitter clinical testing

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