Submissions for variant NM_032790.4(ORAI1):c.8C>T (p.Pro3Leu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002572281	SCV002933064	uncertain significance	Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2	2023-05-23	criteria provided, single submitter	clinical testing	The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. 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: 1897344). 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. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3 of the ORAI1 protein (p.Pro3Leu).
Mayo Clinic Laboratories, Mayo Clinic	RCV004790217	SCV005408412	uncertain significance	not provided	2023-11-17	criteria provided, single submitter	clinical testing	BP4, PM2_moderate