ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) (rs968552859)

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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 RCV000601443 SCV000713304 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing The p.Lys605Arg variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in (1/25142) of La tino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomAD.broad institute.org). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ly s605Arg variant is uncertain.

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