Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001046100 | SCV001209988 | uncertain significance | Brody myopathy | 2021-08-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 134 of the ATP2A1 protein (p.Arg134Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP2A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV003363068 | SCV004079378 | uncertain significance | Inborn genetic diseases | 2023-07-14 | criteria provided, single submitter | clinical testing | The c.400C>T (p.R134C) alteration is located in exon 5 (coding exon 5) of the ATP2A1 gene. This alteration results from a C to T substitution at nucleotide position 400, causing the arginine (R) at amino acid position 134 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |