Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000158615 | SCV000208550 | uncertain significance | not provided | 2022-04-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Invitae | RCV001312375 | SCV001502825 | uncertain significance | Hypertrophic cardiomyopathy | 2020-08-29 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 181229). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 1207 of the MYH7 protein (p.Ile1207Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. |
| Ambry Genetics | RCV002453548 | SCV002616326 | uncertain significance | Cardiovascular phenotype | 2021-12-01 | criteria provided, single submitter | clinical testing | The p.I1207N variant (also known as c.3620T>A), located in coding exon 25 of the MYH7 gene, results from a T to A substitution at nucleotide position 3620. The isoleucine at codon 1207 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002484974 | SCV002800936 | 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 | 2021-11-04 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003998358 | SCV004826938 | uncertain significance | Cardiomyopathy | 2023-04-27 | criteria provided, single submitter | clinical testing |