Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
RCV000754866 | SCV000882680 | uncertain significance | Atrial fibrillation; Tachycardia; Atrial flutter; Abnormal morphology of left ventricular trabeculae | 2018-12-03 | criteria provided, single submitter | research | The variant c.5190G>T (p.M1730I) was detected in a 64 years old female patient with heart rhythm disturbances and a layer of non-compact myocardium not reaching diagnostic criteria for left ventricular noncompaction. No DNA samples were available for family screening. Online prediction tools classify the p.M1730I variant as disease causing. However, with no functional or family studies available, p.M1730I variant can only be classified as variant with unknown clinical significance. |