ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14254G>A (p.Val4752Met)

dbSNP: rs770161970
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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 RCV000600455 SCV000712376 uncertain significance not specified 2016-07-19 criteria provided, single submitter clinical testing The p.Val4752Met variant in USH2A has not been previously reported in individual s with hearing loss or Usher syndrome. It has been identified in 1/16508 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs770161970); however, its frequency is not high enough to ru le out a pathogenic role. Computational prediction tools and conservation analys es do not provide strong support for or against an impact to the protein. In sum mary, the clinical significance of the p.Val4752Met variant is uncertain.

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