ClinVar Miner

Submissions for variant NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter)

dbSNP: rs762143393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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, University of Washington RCV001291138 SCV001479514 likely pathogenic Heart, malformation of; Abnormality of the genitourinary system no assertion criteria provided research

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