ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1189G>A (p.Asp397Asn)

gnomAD frequency: 0.00001  dbSNP: rs558200018
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817997 SCV000958585 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-12-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LRBA-related conditions. This variant is present in population databases (rs558200018, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 397 of the LRBA protein (p.Asp397Asn). ClinVar contains an entry for this variant (Variation ID: 660740). 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 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").

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