Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000539413 | SCV000657865 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2017-07-14 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the FIG4 gene (p.Arg899*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 9 amino acids of the FIG4 protein. This variant is present in population databases (rs750069994, ExAC 0.005%). This variant has been reported in an individual affected with Charcot-Marie-Tooth disease type 4J, however it is unclear if a second variant was identified (PMID: 21705420). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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. |
| Athena Diagnostics Inc | RCV000991996 | SCV001143932 | uncertain significance | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | |
| Inherited Neuropathy Consortium | RCV000789119 | SCV000928470 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |