ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.132_143delACCGCCGCCGTC (p.Pro45_Ser48del)

dbSNP: rs1566465887
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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 RCV001933194 SCV002190077 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro46Serfs*14) in the ORAI1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected 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.

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