Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001044552 | SCV001208356 | uncertain significance | RYR1-related disorder | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 17 of the RYR1 protein (p.Asp17Asn). This variant is present in population databases (rs755878800, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 842174). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
| MGZ Medical Genetics Center | RCV002290569 | SCV002580401 | uncertain significance | Malignant hyperthermia, susceptibility to, 1 | 2021-10-06 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002489586 | SCV002812910 | 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 | 2021-09-14 | criteria provided, single submitter | clinical testing |