ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5190G>T (p.Met1730Ile) (rs1566522989)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 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.

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