Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004583677 | SCV005063302 | uncertain significance | Desmin-related myofibrillar myopathy | 2023-12-13 | criteria provided, single submitter | clinical testing | This variant results in the deletion of exons 2-9 and part of exon 1 (c.329_*8829delinsCAATCGCCT) of the DES gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with DES-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the DES protein in which other variant(s) (p.R173_p.E179del) have been observed in individuals with DES-related conditions (PMID: 9736733, 19433360). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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. |