Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001892889 | SCV002162374 | uncertain significance | RYR1-related disorder | 2022-10-23 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 692 of the RYR1 protein (p.Thr692Ala). This variant is present in population databases (rs763679528, gnomAD 0.02%). 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: 1391067). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RYR1 protein function. 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. |
Fulgent Genetics, |
RCV002482712 | SCV002792728 | 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 | 2021-10-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003136263 | SCV003820568 | uncertain significance | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004010780 | SCV004834498 | uncertain significance | Malignant hyperthermia, susceptibility to, 1 | 2024-01-11 | criteria provided, single submitter | clinical testing |