Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518134 | SCV000614104 | pathogenic | not provided | 2015-05-28 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregates with disease in multiple families |
Invitae | RCV001385507 | SCV001585385 | pathogenic | Charcot-Marie-Tooth disease, type I | 2023-05-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 14179). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects MPZ function (PMID: 18337304). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MPZ protein function. This variant is also known as H52R. This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 8990016). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 81 of the MPZ protein (p.His81Arg). |
OMIM | RCV000015242 | SCV000035501 | pathogenic | Charcot-Marie-Tooth disease type 1B | 1997-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000015242 | SCV000055675 | not provided | Charcot-Marie-Tooth disease type 1B | no assertion provided | literature only | ||
Inherited Neuropathy Consortium | RCV000789479 | SCV000928835 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |