ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln)

gnomAD frequency: 0.00002  dbSNP: rs201878879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821692 SCV000962461 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-05-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 827 of the LRBA protein (p.Arg827Gln). This variant is not present in population databases (gnomAD no frequency). 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: 663750). 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: "Tolerated"; 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.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000821692 SCV002053769 uncertain significance Combined immunodeficiency due to LRBA deficiency criteria provided, single submitter clinical testing

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