ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6874C>T (p.Arg2292Cys) (rs727503722)

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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 RCV000152598 SCV000201888 uncertain significance not specified 2014-08-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg2292Cys vari ant in USH2A has not been previously reported in individuals with hearing loss a nd was absent from large population studies. The arginine (Arg) at position 2292 is not conserved in mammals or evolutionary distant species, raising the possib ility that a change at this position may be tolerated. Additional computational prediction tools suggest that the Arg2292Cys variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the Arg2292Cys variant is uncertain, these data suggest that is more likely to be benign.
Counsyl RCV000673465 SCV000798669 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-16 criteria provided, single submitter clinical testing

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