ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.75C>G (p.Ser25Arg)

gnomAD frequency: 0.00002  dbSNP: rs1273511135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317847 SCV001508525 uncertain significance Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2020-10-21 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 25 of the ORAI1 protein (p.Ser25Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with ORAI1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.
Ambry Genetics RCV002546055 SCV003566331 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.75C>G (p.S25R) alteration is located in exon 1 (coding exon 1) of the ORAI1 gene. This alteration results from a C to G substitution at nucleotide position 75, causing the serine (S) at amino acid position 25 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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