ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1040G>A (p.Gly347Asp)

dbSNP: rs1555122753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523353 SCV000616972 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing The G347D variant of uncertain significance in the MYBPC3 gene has not been published as pathogenic or benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). In addition, G347D is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution also occurs at a position that is conserved across species. In silico analysis predicts G347D is probably damaging to the protein structure/function.

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