ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1838C>T (p.Thr613Ile)

dbSNP: rs146191588
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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, Mass General Brigham Personalized Medicine RCV001195263 SCV001365571 uncertain significance not specified 2020-01-15 criteria provided, single submitter clinical testing The p.Thr613Ile variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.0008% (1/111688) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.

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