ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14911C>T (p.Arg4971Ter) (rs397517994)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671978 SCV000797027 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041772 SCV000065468 pathogenic Rare genetic deafness 2012-09-11 criteria provided, single submitter clinical testing The Arg4971X variant in USH2A has been reported in one individual with Usher syn drome in combination with the Glu767fs pathogenic variant (Le Quesne Stabej 2012 ). This nonsense variant leads to a premature termination codon at position 4971 , which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners .org/LMM).
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787726 SCV000926726 pathogenic Cone-rod dystrophy 2018-04-01 no assertion criteria provided research

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