ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala)

dbSNP: rs772955674
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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 RCV000606146 SCV000712119 uncertain significance not specified 2016-05-13 criteria provided, single submitter clinical testing The p.Gly600Ala variant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 10/16512 of Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs772955674). Although this variant has been seen in the g eneral population, its frequency is not high enough to rule out a pathogenic rol e. Computational prediction tools and conservation analysis suggest that this va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. In summary, the clinical significance of the p.Gly600 Ala variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001213954 SCV001385616 likely benign not provided 2024-03-06 criteria provided, single submitter clinical testing

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