Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000721762 | SCV000852897 | uncertain significance | not provided | 2017-09-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001312367 | SCV001502816 | pathogenic | RYR1-related disorder | 2025-01-21 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3298 of the RYR1 protein (p.Ala3298Thr). This variant is present in population databases (rs544339193, gnomAD 0.05%). This missense change has been observed in individual(s) with clinical features of autosomal recessive RYR1-related myopathy (PMID: 28818389, 30611313; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 590640). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RYR1 protein function with a negative predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002485830 | SCV002787777 | 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 | 2021-11-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000721762 | SCV003810559 | uncertain significance | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Muscle and Diseases Team, |
RCV004586902 | SCV005038486 | likely pathogenic | Centronuclear myopathy | 2024-03-01 | criteria provided, single submitter | research | PM2+PM3+PP1+PP2 |