ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys) (rs730880764)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158584 SCV000208519 likely pathogenic not provided 2013-12-27 criteria provided, single submitter clinical testing p.Glu1013Lys (GAG>AAG): c.3037 G>A in exon 24 of the MYH7 gene (NM_000257.2). The Glu1013Lys variant in the MYH7 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Glu1013Lys variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The Glu1013 residue is conserved across species. In silico analysis predicts Glu1013Lys is damaging to the protein structure/function. A mutation in a nearby residue (Thr1019Asn) has been reported in association with DCM, further supporting the functional importance of this region of the protein. Furthermore, the Glu1013Lys variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, while Glu1013Lys is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. The variant is found in DCM-CRDM panel(s).

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