ClinVar Miner

Submissions for variant NC_000012.12:g.121627011C>T

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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 RCV002632522 SCV003503152 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2022-06-21 criteria provided, single submitter clinical testing 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 and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals affected with ORAI1-related conditions. This variant is present in population databases (rs543433737, gnomAD 0.001%). This sequence change affects codon 88 of the ORAI1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ORAI1 protein.

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