ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11263G>C (p.Gly3755Arg) (rs397517971)

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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 RCV000041691 SCV000065387 uncertain significance not specified 2011-01-17 criteria provided, single submitter clinical testing The Gly3755Arg variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is conserved across mammalian species and computational analyses (PolyPhen2, SIFT, AlignGVGD, MAPP) suggest th at the Gly3755Arg variant may impact the protein. However, this information is n ot predictive enough to assume pathogenicity. In summary, the clinical significa nce of this variant cannot be determined with certainty at this time.
Counsyl RCV000669587 SCV000794356 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-07 criteria provided, single submitter clinical testing

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