Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000689763 | SCV000817429 | uncertain significance | RYR1-related disorder | 2024-04-10 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 102 of the RYR1 protein (p.Tyr102Cys). This variant is present in population databases (rs760138384, gnomAD 0.02%). This missense change has been observed in individual(s) with RYR1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 569191). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |
| Gene |
RCV002298742 | SCV002588083 | uncertain significance | not provided | 2022-04-25 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Athena Diagnostics | RCV002298742 | SCV002817218 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | This observation is not an independent occurrence and has been identified in the same individual by RCIGM, the other laboratory participating in the GEMINI study. |