ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) (rs369997614)

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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 RCV000151483 SCV000199551 uncertain significance not specified 2013-06-02 criteria provided, single submitter clinical testing The Arg336Cys variant in MYO7A has not been reported in individuals with hearing loss but has been identified in 0.01% (1/8298) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Comp utational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to t he protein. In summary, additional data is needed to determine the clinical sign ificance of this variant.

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