Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819189 | SCV000959835 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2021-05-19 | 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 for this variant, and the functional significance of the affected amino acids is currently unknown. This variant has not been reported in the literature in individuals with DSP-related disease. This variant is present in population databases (rs765683790, ExAC 0.02%). This sequence change results in a frameshift in the DSP gene (p.Tyr2862Thrfs*21). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acids of the DSP protein and extend the protein by an additional 11 amino acids. |