Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000036108 | SCV000059760 | benign | not specified | 2014-08-11 | criteria provided, single submitter | clinical testing | Ile1157Val in exon 27A of MYO7A: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 12 mammals have a valine (Val) at this position despite high nearby amino acid conservation. In addition, computational analyses do not suggest a high lik elihood of impact to the protein. |
| Invitae | RCV003105779 | SCV003780783 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1157 of the MYO7A protein (p.Ile1157Val). This variant is present in population databases (rs397516300, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 43204). 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. 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. |