Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000651541 | SCV000773395 | uncertain significance | Desmin-related myofibrillar myopathy | 2022-06-26 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 232 of the DES protein (p.Leu232Phe). 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. 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 DES protein function. ClinVar contains an entry for this variant (Variation ID: 541301). This missense change has been observed in individual(s) with DES-related conditions (PMID: 31983221). This variant is present in population databases (rs764764823, gnomAD 0.02%). |
| Revvity Omics, |
RCV003144447 | SCV003829052 | uncertain significance | not provided | 2021-03-24 | criteria provided, single submitter | clinical testing |