Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001089652 | SCV002206317 | uncertain significance | Brody myopathy | 2023-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 762 of the ATP2A1 protein (p.Arg762Cys). This variant is present in population databases (rs758893778, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 870133). 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. |
Inborn Errors of Metabolism, |
RCV001089652 | SCV001244186 | likely pathogenic | Brody myopathy | 2020-04-17 | no assertion criteria provided | research | The c.2284C>T variant has been detected in trans with a mutation previously reported to be associated to Brody Myopathy. In addition, this variant is predicted to be probably damaging with the in silico algorithms Polyphen-2 and SIFT. |