ClinVar Miner

Submissions for variant NC_000012.12:g.121626959T>G

gnomAD frequency: 0.00001  dbSNP: rs1286173837
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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 RCV000652297 SCV000774165 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2017-11-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ORAI1-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 71 of the ORAI1 protein (p.Met71Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine.

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