Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000056768 | SCV000337080 | uncertain significance | not provided | 2015-10-30 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000799745 | SCV000787471 | likely pathogenic | Desmin-related myofibrillar myopathy | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Myopathy, myofibrillar, 1, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3 => Well-established functional studies show a deleterious effect (PMID:20696008). |
Invitae | RCV000799745 | SCV000939421 | uncertain significance | Desmin-related myofibrillar myopathy | 2023-04-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 355 of the DES protein (p.Arg355Pro). 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. Experimental studies have shown that this missense change affects DES function (PMID: 20696008). 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) has been performed at Invitae 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. ClinVar contains an entry for this variant (Variation ID: 66389). This missense change has been observed in individuals with cardiac and skeletal myopathy (PMID: 16009553, 20696008). This variant is not present in population databases (gnomAD no frequency). |
Revvity Omics, |
RCV000056768 | SCV003829035 | uncertain significance | not provided | 2020-06-26 | criteria provided, single submitter | clinical testing | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056768 | SCV000087881 | not provided | not provided | no assertion provided | not provided |