ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) (rs369539923)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726712 SCV000702325 uncertain significance not provided 2016-10-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000597975 SCV000711157 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing The p.Thr1013Ile variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 6/9716 of Afri can chromosomes and by the Exome Aggregation Consortium (ExAC, http://exac.broad; dbSNP rs369539923). Although this variant has been seen in the ge neral population, its frequency is not high enough to rule out a pathogenic role . Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical signi ficance of the p.Thr1013Ile variant is uncertain.

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