ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg) (rs199827989)

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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 RCV000826072 SCV000967566 uncertain significance not specified 2018-12-13 criteria provided, single submitter clinical testing The p.Ser859Arg variant in USH1C has not been previously been reported in indivi duals with hearing loss or Usher syndrome, but has been identified in 0.008% (3/ 34592) of Latino chromosomes by gnomAD ( Compu tational prediction tools and conservation analysis do not provide strong suppor t for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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