Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035840 | SCV000059491 | uncertain significance | not specified | 2015-06-10 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu1028Gl y variant in MYH7 has not been identified in any other families with cardiomyopa thy or in large population studies. This variant affects an amino acid that is c onserved in evolution and was predicted to be pathogenic using a computational t ool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Glu1 028Gly variant is uncertain. |
Invitae | RCV001346209 | SCV001540389 | uncertain significance | Hypertrophic cardiomyopathy | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1028 of the MYH7 protein (p.Glu1028Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 42947). 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 MYH7 protein function with a positive predictive value of 95%. 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. |
Revvity Omics, |
RCV003133122 | SCV003817748 | uncertain significance | not provided | 2020-07-09 | criteria provided, single submitter | clinical testing |