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

gnomAD frequency: 0.02154  dbSNP: rs61733458

Total submissions: 14

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
Eurofins Ntd Llc (ga)	RCV000116816	SCV000332431	benign	not specified	2015-06-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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, GenePath diagnostics	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000034952	SCV000636875	benign	Deficiency of ferroxidase	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000034952	SCV001136622	likely benign	Deficiency of ferroxidase	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001539064	SCV001756799	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000034952	SCV002796119	likely benign	Deficiency of ferroxidase	2021-11-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001539064	SCV005260904	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000034952	SCV000058572	pathologic	Deficiency of ferroxidase	2013-04-18	flagged submission	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
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000116816	SCV001807672	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001539064	SCV001958029	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116816	SCV001975443	benign	not specified		no assertion criteria provided	clinical testing