ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.185A>G (p.Asn62Ser)

gnomAD frequency: 0.00005  dbSNP: rs143386737
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052860 SCV001217092 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 62 of the LRBA protein (p.Asn62Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs143386737, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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