ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) (rs121965079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036148 SCV000059800 pathogenic Rare genetic deafness 2012-06-08 criteria provided, single submitter clinical testing The 448C>T (Arg150X) variant in MYO7A has been reported in the literature (Levy 1997). The Arg150X variant leads to a premature stop codon at position 150, whic h is predicted to lead to a truncated or absent protein. In summary, this varian t meets our criteria to be classified as pathogenic.
OMIM RCV000012621 SCV000032856 pathogenic Usher syndrome, type 1B 1995-10-10 no assertion criteria provided literature only

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