ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) (rs768207716)

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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, Partners HealthCare Personalized Medicine RCV000223498 SCV000272877 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing The p.Gly127Arg variant in USH1C has not been previously reported in individuals with hearing loss. This variant has been identified in 1/65418 European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs768207716). Computational prediction tools and conservation analyses sug gest that the p.Gly127Arg variant may impact the protein, though this informatio n is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly127Arg variant is uncertain.
Counsyl RCV000672839 SCV000797985 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2018-02-20 criteria provided, single submitter clinical testing

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