ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)

gnomAD frequency: 0.00001  dbSNP: rs397517970
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Total submissions: 5
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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 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
Genome-Nilou Lab RCV003450745 SCV004182154 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271140 SCV004182155 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271140 SCV001451994 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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