Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826181 | SCV000967722 | likely pathogenic | Rare genetic deafness | 2018-12-14 | criteria provided, single submitter | clinical testing | The p.Tyr87PhefsX11 variant in MYO6 has not been previously reported in individu als with hearing loss and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid seque nce beginning at position 87 and leads to a premature termination codon 11 amino acids downstream. This alteration is then predicted to lead to a truncated or a bsent protein. Loss of function of the MYO6 gene is an established disease mecha nism in autosomal dominant hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets c riteria to be classified as likely pathogenic for autosomal dominant hearing los s. ACMG/AMP Criteria applied: PVS1, PM2. |