ClinVar Miner

Submissions for variant NC_000012.12:g.121641182G>A

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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 RCV002785849 SCV003024514 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 149 of the ORAI1 protein (p.Glu149Lys). 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. Experimental studies have shown that this missense change affects ORAI1 function (PMID: 33361160). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant has not been reported in the literature in individuals affected with ORAI1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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