Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753442 | SCV002007507 | uncertain significance | not provided | 2019-11-19 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported previously in a patient with hypertrophic cardiomyopathy (Walsh et al., 2017); This variant is associated with the following publications: (PMID: 27532257) |
CHEO Genetics Diagnostic Laboratory, |
RCV001798094 | SCV002042245 | uncertain significance | Cardiomyopathy | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003586134 | SCV004296291 | uncertain significance | Hypertrophic cardiomyopathy | 2023-04-09 | 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 expected to disrupt MYH7 protein function. ClinVar contains an entry for this variant (Variation ID: 42824). This missense change has been observed in individual(s) with clinical features of hypertrophic cardiomyopathy (PMID: 27532257). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 378 of the MYH7 protein (p.Thr378Pro). |
Laboratory for Molecular Medicine, |
RCV000035700 | SCV000059351 | uncertain significance | not specified | 2009-12-23 | no assertion criteria provided | clinical testing |