Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000056784 | SCV000331912 | pathogenic | not provided | 2018-05-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000811753 | SCV000952036 | pathogenic | Desmin-related myofibrillar myopathy | 2018-12-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects desmin assembly and aggregate formation (PMID: 17221859, 21262226). 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). This variant is not present in population databases (ExAC no frequency). 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. |
Ce |
RCV000056784 | SCV001248942 | pathogenic | not provided | 2018-10-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000811753 | SCV000038607 | pathogenic | Desmin-related myofibrillar myopathy | 2007-04-01 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000056784 | SCV000087897 | not provided | not provided | no assertion provided | not provided |