ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) (rs397516301)

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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 RCV000036116 SCV000059768 likely pathogenic Rare genetic deafness 2011-06-30 criteria provided, single submitter clinical testing The Gly1191Asp variant in MYO7A has not been reported in the literature nor prev iously identified by our laboratory. However, identification of this variant in trans with another MYO7A in this individual?s son who has clinical features of U sher syndrome increases the likelihood that this variant is also pathogenic. In addition, this residue is conserved across species and computational analyses (P olyPhen2, SIFT) suggest that the Gly1191Asp variant may impact the protein. In s ummary, this variant is likely to be pathogenic.

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