ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) (rs397516312)

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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 RCV000036154 SCV000059806 likely pathogenic Rare genetic deafness 2010-09-02 criteria provided, single submitter clinical testing The Cys153Tyr variant has not been reported in the literature but was identified in a patient with Usher syndrome and a second MYO7A variant. This residue is we ll-conserved and computational analyses (PolyPhen, SIFT) suggest it is likely to impact the protein. In addition, the fact that this variant involves a Cysteine residue makes it more likely to impact protein structure due to a high likeliho od of disulfide bond disruption. In summary, this variant is likely to be pathog enic.

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