Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000516461 | SCV000228899 | uncertain significance | not provided | 2015-04-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000516461 | SCV000614108 | pathogenic | not provided | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000819474 | SCV000960137 | pathogenic | Charcot-Marie-Tooth disease, type I | 2018-12-14 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 130 of the MPZ protein (p.Lys130Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Charcot-Marie-Tooth disease type 1B in a family (PMID: 8938258) and has been reported in several additional affected individuals (PMID: 29670817, 26454100, 10923043, 27353517). This variant has also been observed to be de novo in individuals affected with Dejerine-Sottas syndrome (PMID: 12090401). ClinVar contains an entry for this variant (Variation ID: 41021). Experimental studies have shown that this missense change leads to reduced expression of the MPZ protein in patient nerve biopsies (PMID: 11182278). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000033918 | SCV001135456 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000033918 | SCV000057835 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2015-03-26 | no assertion criteria provided | literature only |