Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813425 | SCV000953785 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2018-10-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg728*) in the DYNC1H1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DYNC1H1-related disease. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DYNC1H1 cause disease. |