Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV001254676 | SCV001430730 | likely pathogenic | Dextrocardia | 2020-05-28 | criteria provided, single submitter | research | The heterozygous p.Gln596Ter variant in MYRF was identified by our study in an individual with cardiac-urogenital syndrome (PMID: 30532227). Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. This nonsense variant leads to a premature termination codon at position 596, which is predicted to lead to a truncated or absent protein. While there is some evidence to suggest that heterozygous loss of function of the MYRF gene is a disease mechanism in autosomal dominant cardiac-urogenital syndrome, this association is not yet strongly established based on the criteria laid out in Tayoun, 2018 (PMID: 30192042). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PS2, PM2, PVS1_Moderate (Richards 2015). |
University of Washington Center for Mendelian Genomics, |
RCV001291138 | SCV001479514 | likely pathogenic | Heart, malformation of; Abnormality of the genitourinary system | no assertion criteria provided | research |