ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2280+6del (rs776356060)

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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 RCV000603989 SCV000712322 uncertain significance not specified 2017-09-04 criteria provided, single submitter clinical testing The c.2280+6delT variant in USH1C has not been previously reported in any indivi duals with hearing loss or Usher syndrome, but has been identified in 14/25378 F inish chromosomes and 27/125444 non-Finnish European chromosomes by the Genome A ggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs778799555 ). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. How ever, this information is not predictive enough to rule out pathogenicity. In su mmary, the clinical significance of the c.2280+6delT variant is uncertain.

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