ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.2898del (p.Thr967fs) (rs397518008)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000824792 SCV000065515 pathogenic Rare genetic deafness 2012-11-05 criteria provided, single submitter clinical testing The Thr967fs variant in USH2A has been reported in at least three individuals wi th Usher syndrome, two of whom were homozygous, and was found to segregate with disease in one affected family member (Eudy 1998, Weston 2000, Seyedahmadi 2004, Jaijo 2010). This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 967 and lead to a premature termination cod on 44 amino acids downstream. This alteration is then predicted to lead to a tru ncated or absent protein. In summary, this variant meets our criteria to be clas sified as pathogenic (
Counsyl RCV000671576 SCV000796564 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-24 criteria provided, single submitter clinical testing
OMIM RCV000002446 SCV000022604 pathogenic Usher syndrome, type 2A 2000-04-01 no assertion criteria provided literature only

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