ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2000C>T (p.Pro667Leu) (rs1157049229)

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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 RCV000826070 SCV000967564 uncertain significance not specified 2018-08-07 criteria provided, single submitter clinical testing The p.Pro667Leu variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 2/32140 Latino c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org). Computational prediction tools and conservation analysis suggest that the p.Pro667Leu variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the p.Pro667Leu variant is uncertain. ACMG/AMP Criteria applied: PM2, B P4.

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