ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1157049229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
GeneDx RCV002249534 SCV002520104 uncertain significance not provided 2022-05-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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