ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) (rs397516291)

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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 RCV000036071 SCV000059723 pathogenic Rare genetic deafness 2012-01-27 criteria provided, single submitter clinical testing The Gln655X variant in MYO7A has not been reported in the literature nor previou sly identified by our laboratory. This nonsense variant leads to a premature ter mination codon at position 655, which is predicted to lead to a truncated or abs ent protein. In summary, this variant meets our criteria to be classified as pat hogenic (http://pcpgm.partners.org/LMM).

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