Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000167885 | SCV000218531 | uncertain significance | Familial melanoma | 2016-07-27 | criteria provided, single submitter | clinical testing | In summary, this is a novel variant in the 3' UTR of CDK4 gene. Although there is no evidence to suggest that this sequence change affects either CDK4 mRNA or CDK4 protein function, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change falls in the 3' untranslated region (3' UTR) of the CDK4 gene. It does not change the encoded amino acid sequence of the CDK4 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDK4-related disease. |