Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513368 | SCV003440355 | likely pathogenic | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 457 of the MYO7A protein (p.Ala457Val). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 not expected to disrupt MYO7A protein function. ClinVar contains an entry for this variant (Variation ID: 43144). This missense change has been observed in individuals with autosomal recessive Usher syndrome (PMID: 10930322, 17407589, 21569298, 33089500). |
Laboratory for Molecular Medicine, |
RCV000036048 | SCV000059700 | likely pathogenic | Rare genetic deafness | 2007-08-22 | no assertion criteria provided | clinical testing |