ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1009G>C (p.Ala337Pro) (rs59962885)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000856836 SCV000999053 pathogenic Dilated cardiomyopathy 1I 2019-11-18 criteria provided, single submitter clinical testing The c.1009G>C variant has been previously reported in association with skeletal myopathy with familial segregation (PMID: 9697706), and it has a very low frequency (rs59962885). Clinvar has an entry for this variant (Variation ID:16820). Functional study of the variant shows disruptive effect of proline in helical structure of the protein which leads to a loss of normal function (PMID: 16865695). Based on this evidences the c.1009G>C is classified as Pathogenic.
OMIM RCV000018314 SCV000038593 pathogenic Myofibrillar myopathy 1 1998-08-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056762 SCV000087875 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.