ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.259A>G (p.Lys87Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003791801 SCV004585684 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-10-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 87 of the ORAI1 protein (p.Lys87Glu). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ORAI1-related conditions. Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change does not substantially affect ORAI1 function (PMID: 23943619, 26809793). 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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