ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) (rs111033180)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000844715 SCV000059720 pathogenic Rare genetic deafness 2006-10-28 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000036068 SCV000890866 pathogenic Usher syndrome type 1 2017-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763275 SCV000893919 pathogenic Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001238560 SCV001411380 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg634*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Usher syndrome (PMID: 19074810). ClinVar contains an entry for this variant (Variation ID: 43164). Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). For these reasons, this variant has been classified as Pathogenic.

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