ClinVar Miner

Submissions for variant NC_000012.12:g.121626928T>C

gnomAD frequency: 0.00002  dbSNP: rs201617764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512761 SCV000608666 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524958 SCV003260312 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2022-05-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 444310). 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. This variant has not been reported in the literature in individuals affected with ORAI1-related conditions. This variant is present in population databases (rs201617764, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 61 of the ORAI1 protein (p.Ser61Pro).

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