Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036142 | SCV000059794 | uncertain significance | not specified | 2011-03-09 | criteria provided, single submitter | clinical testing | The Arg147His variant in MYO7A has not been reported in the literature nor previ ously identified in any other families by our laboratory. Computational analyses (PolyPhen2, SIFT) of this amino acid change suggest that it may impact the prot ein based upon high amino acid conservation at Arg147 across many species. Howev er, this information is not predictive enough to assume pathogenicity. In summar y, the clinical significance of the Arg147His variant cannot be determined at th is time. |
Invitae | RCV002513373 | SCV003461400 | uncertain significance | not provided | 2022-06-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 147 of the MYO7A protein (p.Arg147His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 43238). 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. |
Natera, |
RCV001826547 | SCV002093116 | uncertain significance | Usher syndrome type 1B | 2020-12-02 | no assertion criteria provided | clinical testing |