ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met) (rs766245260)

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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 RCV000608638 SCV000731768 uncertain significance not specified 2017-07-27 criteria provided, single submitter clinical testing The p.Thr1279Met variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified 1/96932 European chromosomes by the Genome Aggregation Consortium (gnomAD, http://gnomad.broadins titute.org; dbSNP rs766245260). Although this variant has been seen in the gener al population, its frequency is not high enough to rule out a pathogenic role. C omputational prediction tools and conservation analyses suggest that this varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. In summary, the clinical significance of the p.Thr1279Met variant is uncertain.

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