ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6883G>A (p.Gly2295Arg) (rs768253909)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416248 SCV000493415 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000602087 SCV000713806 uncertain significance not specified 2018-01-20 criteria provided, single submitter clinical testing The p.Gly2295Arg variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 16/111388 Euro pean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broad institute.org; dbSNPrs768253909). This variant has been reported in ClinVar (Var iation ID 374591). Computational prediction tools and conservation analysis sugg est that the p.Gly2295Arg variant may impact the protein and in silico splice pr ediction tools suggest that this variant may create a novel splice acceptor site . However, these tools are not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly2295Arg variant is uncertain. ACM G/AMP Criteria applied: PP3.

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