Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000813630 | SCV000953997 | uncertain significance | Hypertrophic cardiomyopathy | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1480 of the MYH7 protein (p.Glu1480Asp). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 657077). 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. 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. |
| Ambry Genetics | RCV002332679 | SCV002632298 | uncertain significance | Cardiovascular phenotype | 2022-09-22 | criteria provided, single submitter | clinical testing | The p.E1480D variant (also known as c.4440G>T), located in coding exon 30 of the MYH7 gene, results from a G to T substitution at nucleotide position 4440. The glutamic acid at codon 1480 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002487778 | SCV002786159 | uncertain significance | Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy | 2021-10-02 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004001753 | SCV004817987 | uncertain significance | Cardiomyopathy | 2023-03-04 | criteria provided, single submitter | clinical testing |