ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) (rs760187215)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations RCV000757956 SCV000882824 likely pathogenic Primary dilated cardiomyopathy; Left ventricular noncompaction cardiomyopathy 2018-12-06 criteria provided, single submitter research The c.541G>A (p.G181R) variant was previously reported in HGMD database (CM1616486) as a DM(disease causing mutation) and in Atlas of Cardiac Genetic Variations. This is a rare variant with low frequency in population databases. Computational evidence supports a deleterious effect. Also c.541G>A (p.G181R) is located in a domain without benign variation (Walsh et al., 2017). We consider this evidence enough to classify c.541G>A (p.G181R) as likely pathogenic.

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