Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV002265924 | SCV001164530 | uncertain significance | Desmin-related myofibrillar myopathy | 2018-12-03 | criteria provided, single submitter | research | The homozygous p.Glu167Gly variant in DES was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu167Gly variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015). |