Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070451 | SCV001235682 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with valine at codon 75 of the MPZ protein (p.Asp75Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 11080237, 12402337). ClinVar contains an entry for this variant (Variation ID: 14184). This variant has been reported to affect MPZ protein function (PMID: 20461396). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000015248 | SCV000035507 | pathogenic | Charcot-Marie-Tooth disease type 2J | 2000-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000190346 | SCV000055674 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 1b | 2015-03-26 | no assertion criteria provided | literature only | |
Gene |
RCV000192247 | SCV000239895 | pathogenic | Charcot-Marie-Tooth disease | 2015-04-30 | no assertion criteria provided | literature only |