Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV000991405 | SCV001142801 | likely pathogenic | Hypoglycemia; Abnormality of the liver | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001858733 | SCV002294631 | uncertain significance | Hypertrophic cardiomyopathy | 2023-09-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 804425). This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. This variant is present in population databases (rs374670754, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp1087*) 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. |