Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801706 | SCV000941498 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2021-05-17 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been reported to affect LMNA protein function (PMID: 23427149). This variant has been observed to be de novo in an individual affected with muscular dystrophy (Invitae). This sequence change replaces arginine with glycine at codon 386 of the LMNA protein (p.Arg386Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. |