Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ai |
RCV002224607 | SCV002502187 | uncertain significance | not provided | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496165 | SCV002775683 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 22; Autosomal recessive nonsyndromic hearing loss 37 | 2021-10-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002224607 | SCV004275803 | uncertain significance | not provided | 2023-01-10 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1678016). This variant has not been reported in the literature in individuals affected with MYO6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 536 of the MYO6 protein (p.Pro536Leu). 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 MYO6 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. |