ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) (rs111033182)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036175 SCV000059827 pathogenic Rare genetic deafness 2010-12-23 criteria provided, single submitter clinical testing The Arg1701X variant in MYO7A has been reported as a compound heterozygous varia nt in one proband with Usher syndrome (Gerber 2006). In addition, this variant h as been identified by our laboratory as a homozygous variant in two siblings wit h clinical features of Usher syndrome. The Arg1701X variant leads to a premature stop codon at position 1701, which is predicted to lead to a truncated or absen t protein. In summary, this variant meets our criteria to be classified as patho genic.
Counsyl RCV000673155 SCV000798326 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2018-03-09 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074879 SCV001240483 pathogenic Retinal dystrophy 2019-08-08 criteria provided, single submitter clinical testing

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