Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996881 | SCV001151852 | uncertain significance | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001054011 | SCV001218303 | uncertain significance | RYR1-Related Disorders | 2022-03-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2118 of the RYR1 protein (p.Arg2118Trp). This variant is present in population databases (rs148660840, gnomAD 0.01%). This missense change has been observed in individual(s) with centronuclear myopathy (PMID: 25957634). ClinVar contains an entry for this variant (Variation ID: 808548). 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 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. |
Baylor Genetics | RCV001332540 | SCV001524898 | uncertain significance | Central core myopathy | 2019-08-15 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |