Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001854168 | SCV002135927 | uncertain significance | Desmin-related myofibrillar myopathy | 2022-06-15 | criteria provided, single submitter | clinical testing | 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. Studies have shown that disruption of this splice site results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 11073539). ClinVar contains an entry for this variant (Variation ID: 66416). This variant is also known as IVS2-2A>G. Disruption of this splice site has been observed in individuals with clinical features of autosomal dominant DES-related conditions (PMID: 14724127, 17626518, 19716701). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 2 of the DES gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. |
| Epithelial Biology; Institute of Medical Biology, |
RCV000056807 | SCV000087920 | not provided | not provided | no assertion provided | not provided |