Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000701511 | SCV000830314 | uncertain significance | Hypertrophic cardiomyopathy | 2023-01-02 | 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. ClinVar contains an entry for this variant (Variation ID: 578491). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp685Thrfs*41) in the MYH7 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease. |
| Color Diagnostics, |
RCV001177155 | SCV001341327 | uncertain significance | Cardiomyopathy | 2023-03-15 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 19 of the MYH7 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Disease-causing variants in MYH7 are mostly missense variants that act in a dominant-negative manner. The role of MYH7 truncation variants in cardiomyopathy is not clearly established. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002485727 | SCV002784017 | 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 | 2021-08-12 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV003133555 | SCV003817695 | uncertain significance | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing |