ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5710G>A (p.Glu1904Lys) (rs1057518591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413851 SCV000492377 uncertain significance not provided 2016-12-09 criteria provided, single submitter clinical testing The E1904K variant of uncertain significance in the MYH6 gene has not been published as a pathogenic variant, nor has itbeen reported as a benign variant to our knowledge. E1904K was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, nor was it observed in the ExomeAggregation Consortium (ExAC), indicating it is not a common benign variant in these populations. The E1904K variant isa non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ inpolarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved acrossspecies, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, nopathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al.,2014), indicating that this region of the gene is not known to harbor disease-causing variants.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. Thisresult cannot be interpreted for diagnosis or used for family member screening at this time.

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