ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) (rs397516285)

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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 RCV000036050 SCV000059702 pathogenic Rare genetic deafness 2012-05-14 criteria provided, single submitter clinical testing The Trp47X variant (MYO7A) has not been reported in the literature nor previousl y identified by our laboratory. This nonsense variant leads to a premature termi nation codon at position 47, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathog enic (http://pcpgm.partners.org/LMM).

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