Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000992662 | SCV001145109 | likely pathogenic | not provided | 2019-12-20 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Very strong co-segregation with disease in affected individuals from a single family. |
| Labcorp Genetics |
RCV001047019 | SCV001210949 | pathogenic | Charcot-Marie-Tooth disease, type I | 2023-05-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 8436). This variant is also known as 248G>C. This missense change has been observed in individuals with Charcot-Marie-Tooth disease and Charcot-Marie-Tooth disease and deafness (PMID: 10330345, 11920834; Invitae). 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 alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 67 of the PMP22 protein (p.Ala67Pro). |
| OMIM | RCV000008951 | SCV000029161 | pathogenic | Charcot-Marie-Tooth disease type 1E | 1999-06-01 | no assertion criteria provided | literature only | |
| Gene |
RCV000008951 | SCV000055664 | not provided | Charcot-Marie-Tooth disease type 1E | no assertion provided | literature only |