ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11500T>A (p.Leu3834Met)

dbSNP: rs1553257690
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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 RCV000604261 SCV000731547 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing The p.Leu3834Met variant in USH2A has not been previously reported in individual s with hearing loss or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Leu3834Met variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Leu3834Met variant is unc ertain

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