ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys) (rs730880916)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158871 SCV000208806 likely pathogenic not provided 2016-04-25 criteria provided, single submitter clinical testing The Glu1752Lys mutation in the MYH7 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism, to our knowledge. Glu1752Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid residue with a positively charged Lysine residue at a position that is highly conserved across species in related proteins. Also, in silico analysis predicts Glu1752Lys to be a disease causing change. Additionally, a mutation at a neighboring residue (Glu1753Lys) as well as nearby residues (Thr1760Met, Ala1766Thr) have been reported in association with cardiomyopathy, further supporting the functional importance of this residue and this region of the protein. Furthermore, Glu1752Lys was not observed in up to 400 alleles from control individuals of Caucasian and African American ancestry tested at GeneDx, indicating it is not a common benign polymorphism in these populations.

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