Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788380 | SCV000927466 | likely pathogenic | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150349 | SCV003838757 | uncertain significance | Cardiomyopathy | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003586220 | SCV004296269 | uncertain significance | Hypertrophic cardiomyopathy | 2023-08-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 636527). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 12974739, 22429680, 33673806). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 824 of the MYH7 protein (p.Val824Ile). |