ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) (rs574917232)

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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 RCV000220543 SCV000272155 uncertain significance not specified 2015-08-26 criteria provided, single submitter clinical testing The p.Ala1755Val variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 3/7904 South A sian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org). Splice prediction tools suggest the creation of a cryptic 5' splice site; however, this information is not predictive enough to determine pathogeni city. Additional computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ala1755Val variant is uncertain.

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