ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) (rs727505337)

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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 RCV000156887 SCV000206608 pathogenic Rare genetic deafness 2014-11-12 criteria provided, single submitter clinical testing The p.Gly3814X variant in USH2A has not been previously reported in individuals with hearing loss and was absent from large population studies. This nonsense va riant leads to a premature termination codon at position 3814, which is predicte d to lead to a truncated or absent protein. In summary, this variant meets our c riteria to be classified as pathogenic for Usher syndrome in an autosomal recess ive manner (www.partners.org/personalizedmedicine/lmm).
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787718 SCV000926713 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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