Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216690 | SCV000271418 | pathogenic | Rare genetic deafness | 2015-03-25 | criteria provided, single submitter | clinical testing | The p.Ser153X variant in MYO6 has not been previously reported in individuals wi th hearing loss and was absent from large population studies. This nonsense vari ant leads to a premature termination codon at position 153, which is predicted t o lead to a truncated or absent protein. Loss-of-function variants in the MYO6 g ene have been reported in families with nonsyndromic hearing loss with either a dominant or recessive pattern of inheritance (Ahmed 2003, Hilgert 2008, Sanggaar d 2008), and in vitro studies support a causal role for MYO6 variants in hearing loss (Avraham, 1995, Kiernan 1999, Williams 2013). In summary, this variant mee ts our criteria to be classified as pathogenic (www.partners.org/personalizedmed icine/lmm). |