ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.182C>A (p.Pro61Gln)

dbSNP: rs938662688
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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 RCV000601357 SCV000713820 uncertain significance not specified 2018-01-25 criteria provided, single submitter clinical testing The p.Pro61Gln variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 1/111430 Europea n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins titute.org). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Pro61 Gln variant is uncertain. ACMG/AMP Criteria applied: PM2.
Natera, Inc. RCV001829716 SCV002094039 uncertain significance Usher syndrome type 2A 2020-02-21 no assertion criteria provided clinical testing

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