Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002011064 | SCV002292335 | uncertain significance | Congenital myopathy with internal nuclei and atypical cores | 2021-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln134Argfs*19) in the CCDC78 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CCDC78 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. This variant has not been reported in the literature in individuals affected with CCDC78-related conditions. This variant is present in population databases (rs758119082, ExAC 0.006%). |