ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6847G>A (p.Asp2283Asn)

gnomAD frequency: 0.00001  dbSNP: rs939898061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001267770 SCV003519680 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-06-16 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 973647). This missense change has been observed in individual(s) with LRBA-related conditions (PMID: 34573280). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2294 of the LRBA protein (p.Asp2294Asn).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596432 SCV005090624 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267770 SCV001424087 uncertain significance Combined immunodeficiency due to LRBA deficiency 2020-05-21 no assertion criteria provided clinical testing

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