ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.1739_1742dup (p.His581fs) (rs193922771)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000119584 SCV000568771 pathogenic not provided 2016-11-10 criteria provided, single submitter clinical testing The c.1739_1742dupATCA variant in the RYR1 gene has been reported previously in association with autosomal recessive congenital myopathy, in an affected individual who was compound heterozygous for the c.1739_1742dupATCA variant and a missense variant in the RYR1 gene (Monnier et al., 2008). The c.1739_1742dupATCA variant causes a frameshift starting with codon Histidine 581, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 30 of the new reading frame, denoted p.His581GlnfsX30. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1739_1742dupATCA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1739_1742dupATCA as a pathogenic variant.
Leiden Muscular Dystrophy (RYR1) RCV000119584 SCV000154491 not provided not provided no assertion provided not provided
OMIM RCV000013867 SCV000034114 pathogenic Minicore myopathy 2008-05-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.