Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV002226649 | SCV002505677 | likely pathogenic | Charcot-Marie-Tooth disease type 1B | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514101 | SCV003523892 | uncertain significance | Charcot-Marie-Tooth disease, type I | 2022-08-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 14193). This variant is also known as N60H. This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 14638973). 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 aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 60 of the MPZ protein (p.Asp60His). |
OMIM | RCV000015257 | SCV000035516 | pathogenic | Charcot-Marie-Tooth disease type 2I | 2004-07-13 | no assertion criteria provided | literature only |