ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7591G>A (p.Asp2531Asn)

gnomAD frequency: 0.00001  dbSNP: rs372989431
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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 RCV001195268 SCV001365577 uncertain significance not specified 2019-04-12 criteria provided, single submitter clinical testing The p.Asp2531Asn variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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