Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001210665 | SCV001382162 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2C | 2019-06-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu623Serfs*3) in the TRPV4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TRPV4-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPV4 cause 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. |
Centogene AG - |
RCV001210665 | SCV002028308 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2C | 2021-08-26 | criteria provided, single submitter | clinical testing |