Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230157 | SCV001402629 | uncertain significance | Hypertrophic cardiomyopathy | 2023-01-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg685*) in the MYOM1 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 MYOM1 cause disease. 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: 957216). This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). |