ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1325C>T (p.Thr442Ile) (rs121913005)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000056784 SCV000331912 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV000811753 SCV000952036 pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 442 of the DES protein (p.Thr442Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with autosomal dominant cardiac and skeletal myopathy in families (PMID: 17221859, 22153487) and has been reported in several individuals affected with autosomal dominant myofibrillar myopathy and desmin-related myopathy (PMID:18653338, 22215463). ClinVar contains an entry for this variant (Variation ID: 16834). Experimental studies have shown that this missense change affects desmin assembly and aggregate formation (PMID: 17221859, 21262226). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000056784 SCV001248942 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
OMIM RCV000018328 SCV000038607 pathogenic Myofibrillar myopathy 1 2007-04-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056784 SCV000087897 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.