Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000526033 | SCV000657861 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-02-04 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 21 of the FIG4 gene. It does not directly change the encoded amino acid sequence of the FIG4 protein. This variant is present in population databases (rs201965891, ExAC 0.001%). This variant has not been reported in the literature in individuals with a FIG4-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on FIG4 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Athena Diagnostics Inc | RCV000711654 | SCV000842041 | uncertain significance | not provided | 2018-03-26 | criteria provided, single submitter | clinical testing | |
Genesis Genome Database | RCV000857171 | SCV000999752 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |