ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1064G>C (p.Arg355Pro)

dbSNP: rs61368398
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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, Revvity RCV000056768 SCV003829035 uncertain significance not provided 2020-06-26 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056768 SCV000087881 not provided not provided no assertion provided not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.