Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000624800 | SCV000742559 | pathogenic | Inborn genetic diseases | 2017-06-14 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV000990864 | SCV001141914 | pathogenic | Charcot-Marie-Tooth disease X-linked dominant 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001855312 | SCV002236671 | pathogenic | Charcot-Marie-Tooth Neuropathy X | 2021-12-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GJB1 protein in which other variant(s) (p.Ser258Profs*2) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 521808). This variant is also known as del GT in codon 131–132. This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 9888385, 10093067). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp132Valfs*14) in the GJB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 152 amino acid(s) of the GJB1 protein. |
| Inherited Neuropathy Consortium | RCV000789280 | SCV000928633 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
| Inherited Neuropathy Consortium Ii, |
RCV000990864 | SCV004174663 | uncertain significance | Charcot-Marie-Tooth disease X-linked dominant 1 | 2016-01-06 | no assertion criteria provided | literature only |