Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000197438 | SCV000255308 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2019-07-30 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the MFN2 gene. It does not directly change the encoded amino acid sequence of the MFN2 protein. This variant is present in population databases (rs767519297, ExAC 0.01%). This variant has been observed in combination with another MFN2 variant in individuals affected with sensory and motor neuropathy (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 216874). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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. |
| Genesis Genome Database | RCV000857097 | SCV000999670 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |