ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5659del (p.Glu1887fs) (rs730880892)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158834 SCV000208769 likely pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The c.5659delG variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This variant causes a shift in reading frame starting at codon Glutamic acid 1887, changing it to a Serine, and creating a premature stop codon at position 46 of the new reading frame, denoted p.Glu1887SerfsX46. This variant is expected to result in an abnormal, truncated protein product. The c.5659delG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.5659delG as a likely pathogenic variant.

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