Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000689425 | SCV000817075 | pathogenic | Charcot-Marie-Tooth disease, type I | 2021-02-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly150 amino acid residue in PMP22. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1552943, 8995589, 9425015, 10078969, 10982389, 15474367, 15537650, 18795802, 25385046, 26102530). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in individual(s) with PMP22-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 568922). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the PMP22 gene (p.Phe88Hisfs*134). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 73 amino acid(s) of the PMP22 protein and extend the protein by 60 additional amino acid residues. |
| Genome |
RCV005863247 | SCV006556260 | not provided | Hereditary liability to pressure palsies; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA | no classification provided | phenotyping only | Variant classified as Pathogenic and reported on 02-16-2021 by Invitae. GenomeConnect-InvitaePIN assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |