ClinVar Miner

Submissions for variant NC_000012.12:g.121626975G>C

gnomAD frequency: 0.00001  dbSNP: rs1555322589
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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 RCV001359187 SCV001555049 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2020-07-31 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 76 of the ORAI1 protein (p.Trp76Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ORAI1-related conditions. This variant has been reported not to substantially affect ORAI1 protein function (PMID: 26546674). 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.

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