Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062943 | SCV001227769 | uncertain significance | Baller-Gerold syndrome | 2021-10-02 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RECQL4-related conditions. This variant is present in population databases (rs748047415, ExAC 0.006%). This sequence change results in a premature translational stop signal in the RECQL4 gene (p.Gln1205*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acids of the RECQL4 protein. |