Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000057227 | SCV000331050 | pathogenic | not provided | 2016-10-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000470514 | SCV000548856 | pathogenic | Charcot-Marie-Tooth disease, type 2 | 2019-12-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 358 of the LMNA protein (p.Glu358Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (rs60458016, ExAC no frequency). This variant has been reported in several individuals affected with Emery-Dreifuss muscular dystrophy, infantile inflammatory myopathy, and dilated cardiomyopathy (PMID: 10939567, 20980393, 23183350, 24508248, 21632249). This variant has also been reported in individuals in the Leiden Open-Source Variation Database, and was reported to arise de novo in individuals affected with Emery-Dreifuss muscular dystrophy and limb girdle muscular dystrophy (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 14525). Experimental studies have shown that this missense change leads to mislocalization of the LMNA protein, with decreased nuclear rim staining and formation of intranuclear foci (PMID: 23427149, 11792809). For these reasons, this variant has been classified as Pathogenic. |
Genetic Services Laboratory, |
RCV000502108 | SCV000595623 | pathogenic | Muscular dystrophy | 2013-02-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015622 | SCV000035887 | pathogenic | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2008-08-01 | no assertion criteria provided | literature only | |
OMIM | RCV000015623 | SCV000035888 | pathogenic | Congenital muscular dystrophy, LMNA-related | 2008-08-01 | no assertion criteria provided | literature only | |
Epithelial Biology; Institute of Medical Biology, |
RCV000057227 | SCV000088340 | not provided | not provided | no assertion provided | not provided |