ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001249764 SCV001423797 likely pathogenic Dilated cardiomyopathy 1S 2019-10-29 criteria provided, single submitter clinical testing The MYH7 c.1559G>T (p.Cys520Phe) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in Genome Aggregation Database in a region of good sequencing coverage so the variant is presumed to be rare. The variant lies within the myosin motor domain, which binds to actin, ATP, ADP, and Pi, and drives muscle contraction (Postma et al. 2011; Colegrave and Peckham, 2014). Based on the location of the residue in an important domain, the variant's absence from frequency databases, missense variants being a known mechanism of disease, and deleterious predictions by in silico tools, the p.Cys520Phe variant is classified as likely pathogenic for left ventricular noncompaction cardiomyopathy.

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