Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517355 | SCV000614106 | pathogenic | not provided | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000638155 | SCV000759641 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 124 of the MPZ protein (p.Thr124Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Charcot-Marie-Tooth disease in multiple families (PMID: 12948789, 15159512, 19629567, 25720167) and has also been reported in several unrelated affected individuals (PMID: 9452091, 26234237, 12207153, 10923043, 16279991). ClinVar contains an entry for this variant (Variation ID: 14181). Experimental studies have shown that this missense change decreases myelin protein zero mediated intracellular adhesion (PMID: 20461396, 18337304). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000763262 | SCV000893900 | pathogenic | Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate d; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000517355 | SCV001249783 | pathogenic | not provided | 2017-10-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262744 | SCV001440723 | pathogenic | Charcot-Marie-Tooth disease dominant intermediate d | 2019-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000015244 | SCV000035503 | pathogenic | Charcot-Marie-Tooth disease type 2J | 2006-06-15 | no assertion criteria provided | literature only | |
OMIM | RCV000015245 | SCV000035504 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2006-06-15 | no assertion criteria provided | literature only | |
Gene |
RCV000015245 | SCV000057834 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2015-03-26 | no assertion criteria provided | literature only | |
Gene |
RCV000192248 | SCV000239896 | pathogenic | Charcot-Marie-Tooth disease | 2015-04-30 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000192248 | SCV000929509 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |