ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) (rs781922871)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000606605 SCV000712028 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing p.Arg302Cys in exon 9 of MYO7A: This variant is not expected to have clinical si gnificance because the arginine (Arg) at position 302 is not conserved through s pecies with two mammals (Golden mole and hedgehog) having a cysteine (Cys) at th is position. In addition, a different variant affecting the same amino acid res idue (p.Arg302His) has been identified in 0.6% (381/64792) of European chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs41298135). This information collectively indicates that the p.Arg302Cys va riant likely to tolerated and it is therefore likely benign.

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