Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173541 | SCV000224663 | benign | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000173541 | SCV000539975 | benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF |
Invitae | RCV000652296 | SCV000774164 | uncertain significance | Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 | 2018-11-20 | criteria provided, single submitter | clinical testing | This variant, c.132_137delACCGCC, results in the deletion of 2 amino acids of the ORAI1 protein (p.Pro46_Pro47del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781920662, ExAC 0.01%). This variant has not been reported in the literature in individuals with ORAI1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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. |