Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 (http://pcpgm.partners.org/LMM). |
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 |