ClinVar Miner

Submissions for variant NC_000012.12:g.121626886C>T

gnomAD frequency: 0.00011  dbSNP: rs782786977
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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 RCV001967477 SCV002197623 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2023-08-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs782786977, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 47 of the ORAI1 protein (p.Pro47Ser). 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 functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1430318). This variant has not been reported in the literature in individuals affected with ORAI1-related conditions.

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