Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000056765 | SCV000841804 | pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant appears to be associated with disease in at least one family. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant caused disruption of mitochondrial structures (PMID: 16217025). |
Invitae | RCV001044194 | SCV001207976 | pathogenic | Desmin-related myofibrillar myopathy | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 345 of the DES protein (p.Leu345Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant myofibrillar myopathy (PMID: 10545598). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16825). 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. Experimental studies have shown that this missense change affects DES function (PMID: 10545598, 18563598). For these reasons, this variant has been classified as Pathogenic. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000056765 | SCV001433465 | pathogenic | not provided | 2020-01-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000056765 | SCV002024039 | likely pathogenic | not provided | 2022-04-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000056765 | SCV004704299 | pathogenic | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | DES: PP1:Strong, PM1, PM2, PS3:Moderate, PS4:Moderate, PP3 |
OMIM | RCV001044194 | SCV000038598 | pathogenic | Desmin-related myofibrillar myopathy | 1999-11-01 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056765 | SCV000087878 | not provided | not provided | no assertion provided | not provided |