Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795851 | SCV000935329 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2018-12-25 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DSP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 965 of the DSP protein (p.Leu965Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845321 | SCV000987364 | uncertain significance | Left ventricular noncompaction | criteria provided, single submitter | clinical testing | ||
Human Genome Sequencing Center Clinical Lab, |
RCV001258156 | SCV001435044 | uncertain significance | Arrhythmogenic right ventricular dysplasia 8 | criteria provided, single submitter | clinical testing |