Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001348438 | SCV001542742 | pathogenic | Hypertrophic cardiomyopathy | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1646 of the MYH7 protein (p.Leu1646Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant distal myopathy (PMID: 24664454; Invitae). ClinVar contains an entry for this variant (Variation ID: 143214). 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. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Medical Genetics, |
RCV003320105 | SCV004013906 | pathogenic | Myosin storage myopathy | 2021-10-25 | criteria provided, single submitter | clinical testing | PS2, PM2, PP2, PP3, PP5 |
Neurogenetics Laboratory, |
RCV000132754 | SCV000119905 | pathogenic | MYH7-related skeletal myopathy | 2013-01-01 | no assertion criteria provided | clinical testing |