Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037465 | SCV001200880 | uncertain significance | Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita | 2020-08-02 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the DCLRE1B gene (p.Arg170*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 363 amino acids of the DCLRE1B protein. This variant is present in population databases (rs138603501, ExAC 0.01%). This variant has not been reported in the literature in individuals with DCLRE1B-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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. |