ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)

gnomAD frequency: 0.00003  dbSNP: rs760024584
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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 RCV000601359 SCV000712359 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing The p.Val3805Ala variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 1/666 44 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs760024584); however, this frequency in the general po pulation is not high enough to rule out a pathogenic role. Computational predict ion tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Val38 05Ala variant is uncertain.
Natera, Inc. RCV001834926 SCV002088331 uncertain significance Usher syndrome type 2A 2019-11-11 no assertion criteria provided clinical testing

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