ClinVar Miner

Submissions for variant NC_000012.12:g.121641453C>T

gnomAD frequency: 0.00001  dbSNP: rs782580422
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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 RCV001300507 SCV001489650 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2020-08-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ORAI1-related conditions. 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 is present in population databases (rs782580422, ExAC 0.006%). This sequence change replaces serine with leucine at codon 239 of the ORAI1 protein (p.Ser239Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine.

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