ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7452G>T (p.Glu2484Asp) (rs397518031)

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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 RCV000041909 SCV000065605 uncertain significance not specified 2011-03-08 criteria provided, single submitter clinical testing The Glu2484Asp variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong supp ort for or against pathogenicity. Although this variant also occurs within the s plice consensus sequence, it does not predict a significant enough impact to the splice sequence to assume it is pathogenic. In summary, the clinical significan ce of this variant cannot be determined with certainty at this time.
Counsyl RCV000666378 SCV000790659 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-31 criteria provided, single submitter clinical testing

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