Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055480 | SCV001219874 | uncertain significance | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 834 of the MYO7A protein (p.Arg834Cys). 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: 851143). 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. |
Laboratory for Molecular Medicine, |
RCV001449826 | SCV001653127 | uncertain significance | not specified | 2020-06-01 | criteria provided, single submitter | clinical testing | The p.Arg834Cys variant in MYO7A has not been previously reported in individuals with hearing loss but has been identified in 0.012% of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |
Ce |
RCV001055480 | SCV001746093 | uncertain significance | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001827353 | SCV002086626 | uncertain significance | Usher syndrome type 1B | 2020-03-10 | no assertion criteria provided | clinical testing |