ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10933G>A (p.Val3645Ile) (rs397517970)

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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 RCV000041684 SCV000065380 uncertain significance not specified 2011-09-04 criteria provided, single submitter clinical testing The Val3645Ile variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is conserved across species an d computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Arg626Gln variant may impact the protein. However, this information is not predictive eno ugh to assume pathogenicity. In summary, the clinical significance of this varia nt cannot be determined with certainty at this time.
Counsyl RCV000669823 SCV000794612 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-02 criteria provided, single submitter clinical testing

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