ClinVar Miner

Submissions for variant NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly)

gnomAD frequency: 0.00001  dbSNP: rs886037751
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 RCV001778788 SCV002015408 uncertain significance not provided 2021-10-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 26531781)
Department of Medical Biology, Academic Medical Center RCV000240665 SCV000246002 likely pathogenic Dextrocardia 2015-09-01 no assertion criteria provided research
OMIM RCV001812206 SCV002060403 pathogenic Heterotaxy, visceral, 6, autosomal 2022-01-14 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.