ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1652C>T (p.Thr551Ile) (rs61733458)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116816 SCV000150890 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116816 SCV000332431 benign not specified 2015-06-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000034952 SCV000441634 benign Deficiency of ferroxidase 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GenePathDx,Causeway Health Care Private Ltd RCV000034952 SCV000574535 likely benign Deficiency of ferroxidase 2017-02-01 criteria provided, single submitter clinical testing 25 years old, suspected case of Aceruloplasminemia. Next generation DNA sequencing ofperipheral blood sample has revealed the presence of two homozygous variants in the CP gene. The c.1652C>T variant is being classified as a ‘Variant of Unknown Significance, likely benign’, while the c.1679G>T variant is being classified as a ‘Variant of Unknown Significance, likely pathogenic’ based on available evidence in the databases and in silico mutation prediction methods.
Invitae RCV000034952 SCV000636875 benign Deficiency of ferroxidase 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000034952 SCV001136622 likely benign Deficiency of ferroxidase 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000034952 SCV000058572 pathologic Deficiency of ferroxidase 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000034952 SCV000734250 benign Deficiency of ferroxidase no assertion criteria provided clinical testing

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.