ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter) (rs1553149182)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627347 SCV000748339 pathogenic not provided 2018-04-26 criteria provided, single submitter clinical testing The R74X variant in the NFIA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R74X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R74X as a pathogenic variant.
GenomeConnect, ClinGen RCV000844944 SCV000986763 not provided NFIA-related disorders no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 05/09/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.