Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000056788 | SCV000338833 | uncertain significance | not provided | 2016-02-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000056788 | SCV000568190 | uncertain significance | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies suggest a damaging effect through altered binding properties with nebulette protein (PMID: 27733623); This variant is associated with the following publications: (PMID: 21262226, 23615443, 22215463, 19181099, 26807690, 27733623, 16376610) |
| Revvity Omics, |
RCV000056788 | SCV002024056 | likely pathogenic | not provided | 2023-12-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001854167 | SCV002200234 | uncertain significance | Desmin-related myofibrillar myopathy | 2024-11-21 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 453 of the DES protein (p.Thr453Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of DES-related conditions (PMID: 16376610, 19181099). ClinVar contains an entry for this variant (Variation ID: 66401). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DES protein function. Experimental studies have shown that this missense change affects DES function (PMID: 27733623). 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. |
| Epithelial Biology; Institute of Medical Biology, |
RCV000056788 | SCV000087901 | not provided | not provided | no assertion provided | not provided |