ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.758A>G (p.His253Arg) (rs375200566)

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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 RCV000156478 SCV000206197 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing The His253Arg variant in MYO7A has not been previously reported in individuals w ith hearing loss, but has been identified in 0.05% (2/3912) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/). Although this variant has been seen in the general population, its freque ncy is not high enough to rule out pathogenicity. Computational prediction tools and conservation analyses do not provide strong support for or against an impac t to the protein. In summary, additional information is needed to determine the clinical significance of this variant.

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