ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) (rs368675850)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482491 SCV000565651 likely pathogenic not provided 2013-03-19 criteria provided, single submitter clinical testing The R3905C missense change in the USH2A gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The R3905C amino acid substitution is non-conservative with positively charged residue (Arg) being replaced a neutral residue (Cys). Furthermore, the addition of a Cysteine residue may affect disulfide bonds. The residue at which this substitution occurs is well conserved within the fibronectin type III domain of the usherin protein. According to the Human Gene Mutation Database (HGMD) other missense mutations in neighboring residues (N3894G and G3895E) have been reported in association with Usher syndrome. The R3905C variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Therefore, R3905C is a strong candidate for a pathogenic variant, although the possibility that it is a benign variant cannot be excluded.
Counsyl RCV000675144 SCV000800740 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000482491 SCV001147667 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225477 SCV000282647 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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