ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2701C>T (p.Arg901Ter)

gnomAD frequency: 0.00001  dbSNP: rs386134156
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
CeGaT Center for Human Genetics Tuebingen RCV002262599 SCV002544840 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing CP: PVS1, PM2
Invitae RCV000034951 SCV003525673 pathogenic Deficiency of ferroxidase 2023-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 42124). This variant is also known as aa882 CGA;ArgTGA;stop. This premature translational stop signal has been observed in individual(s) with autosomal recessive aceruloplasminemia (PMID: 11909923). This variant is present in population databases (rs386134156, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg901*) in the CP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CP are known to be pathogenic (PMID: 16629161).
GeneReviews RCV000034951 SCV000058571 pathologic Deficiency of ferroxidase 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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.