ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5254T>G (p.Leu1752Val)

dbSNP: rs727503728
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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 RCV000152610 SCV000201909 uncertain significance not specified 2014-12-02 criteria provided, single submitter clinical testing The p.Leu1752Val 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 do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Leu1752Val va riant is uncertain.

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