ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser)

dbSNP: rs1244560316
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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 RCV001237483 SCV001410244 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 20 of the ORAI1 protein (p.Gly20Ser). This variant is not present in population databases (gnomAD no frequency). 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: 963454). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987806 SCV004803302 uncertain significance not specified 2024-01-12 criteria provided, single submitter clinical testing Variant summary: ORAI1 c.58G>A (p.Gly20Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.58G>A in individuals affected with Myopathy, Tubular Aggregate, 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 963454). Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV003992476 SCV004811396 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing ORAI1: PM2

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