Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000494395 | SCV000583273 | uncertain significance | not provided | 2017-05-18 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the RYR1 gene. The T84R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T84R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T84R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have been reported in Human Gene Mutation Database in association with RYR1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Fulgent Genetics, |
RCV002489213 | SCV002782802 | uncertain significance | Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome | 2021-09-23 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000494395 | SCV003813148 | uncertain significance | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing |