Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219111 | SCV000271428 | pathogenic | Rare genetic deafness | 2015-02-26 | criteria provided, single submitter | clinical testing | The p.Tyr1497X variant in OTOF has been reported in 5 Lebanese individuals with hearing loss and segregated with disease in 17 affected relatives from 4 familie s (Yasunaga 1999, Rodriguez-Ballesteros 2008). All individuals were homozygous a nd 1 individual was reported to have auditory neuropathy. The p.Tyr1497X variant has not been identified in large population studies. This nonsense variant lead s to a premature termination codon at position 1497, which is predicted to lead to a truncated or absent protein. In summary, the p.Tyr1497X variant meets our c riteria to be classified as pathogenic for hearing loss in an autosomal recessiv e manner (http://www.partners.org/personalizedmedicine/LMM) based upon the predi cted impact on the protein, segregation studies, and low frequency in the genera l population. |
OMIM | RCV000006507 | SCV000026690 | pathogenic | Autosomal recessive nonsyndromic hearing loss 9 | 1999-04-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006507 | SCV000041717 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only |