ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg)

dbSNP: rs1372064351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652298 SCV000774166 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-01-11 criteria provided, single submitter clinical testing This variant, c.85_99dup, results in the insertion of 5 amino acid(s) of the ORAI1 protein (p.Arg29_Arg33dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ORAI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 541943). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Revvity Omics, Revvity RCV003488767 SCV004235683 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003488767 SCV005408415 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing PM4

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