Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000735130 | SCV000863330 | uncertain significance | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855832 | SCV002294052 | uncertain significance | Myofibrillar myopathy 3 | 2022-11-09 | criteria provided, single submitter | clinical testing | 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. 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 MYOT protein function. ClinVar contains an entry for this variant (Variation ID: 598678). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. This variant is present in population databases (rs148166751, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 155 of the MYOT protein (p.Glu155Ala). |