ClinVar Miner

Submissions for variant NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) (rs771466122)

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
Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University RCV000223948 SCV000266357 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2016-03-14 criteria provided, single submitter research
GeneDx RCV000521126 SCV000618447 pathogenic not provided 2017-09-08 criteria provided, single submitter clinical testing The R530C variant in the FLAD1 gene has previously been reported in two individuals with adult onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency who were compound heterozygous for frameshift variants in FLAD1 (Olsen et al., 2016). Functional analysis of R530C found that is is associated with higher sensitivity to proteolytic degradation and significantly reduced catalytic activity compared to wild-type (Olsen et al., 2016). The R530C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R530C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret R530C to be a pathogenic variant.
OMIM RCV000234835 SCV000292023 pathogenic Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 2019-09-10 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.