ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1877G>A (p.Arg626Gln) (rs192524347)

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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 RCV000041800 SCV000065496 uncertain significance not specified 2011-09-04 criteria provided, single submitter clinical testing The Arg626Gln variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. This residue is conserved across species and computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Arg626Gln variant may impact the protein. However, this information is not predictive enou gh to assume pathogenicity. In summary, the clinical significance of this varian t cannot be determined with certainty at this time.
Counsyl RCV000665675 SCV000789834 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-22 criteria provided, single submitter clinical testing

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