ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.820C>T (p.Arg274Ter) (rs397518036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669898 SCV000794697 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041921 SCV000065617 pathogenic Rare genetic deafness 2012-07-26 criteria provided, single submitter clinical testing The Arg274X variant in USH2A has been reported in 2 individuals with Usher syndr ome type II who were compound heterozygous with a second pathogenic USH2A varian t (Garcia-Garcia 2011). This nonsense variant leads to a premature termination c odon at position 274, which is predicted to lead to a truncated or absent protei n. In summary, this variant meets our criteria to be classified as pathogenic (h ttp://pcpgm.partners.org/LMM).

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