ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.1A>T (p.Met1Leu)

gnomAD frequency: 0.00004  dbSNP: rs797044624
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173542 SCV000224664 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852111 SCV002160708 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-11-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ORAI1 mRNA. The next in-frame methionine is located at codon 64. This variant is present in population databases (rs797044624, gnomAD 0.007%). 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: 193470). 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.
Fulgent Genetics, Fulgent Genetics RCV001852111 SCV002779331 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2022-05-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000173542 SCV004235682 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing

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