Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000615073 | SCV000731483 | uncertain significance | not specified | 2017-03-07 | criteria provided, single submitter | clinical testing | The p.Gly1219Val variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome. Data from large population studies is ins ufficient to assess the frequency of this variant. Computational prediction tool s and conservation analyses do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Gly1219Val var iant is uncertain. |
| Invitae | RCV001868088 | SCV002205696 | uncertain significance | not provided | 2022-02-24 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO7A protein function. ClinVar contains an entry for this variant (Variation ID: 517280). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1219 of the MYO7A protein (p.Gly1219Val). |