Submissions for variant NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243074	SCV000303933	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000337679	SCV000427152	likely benign	Familial hypobetalipoproteinemia 1	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001094705	SCV000427153	benign	Hypercholesterolemia, autosomal dominant, type B	2018-01-12	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.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000407187	SCV000588418	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Invitae	RCV001837799	SCV000659271	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000407187	SCV000687212	benign	Hypercholesterolemia, familial, 1	2017-06-26	criteria provided, single submitter	clinical testing
Robarts Research Institute, Western University	RCV000407187	SCV000782820	likely benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000985334	SCV001133395	benign	not provided	2023-03-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000985334	SCV001948663	benign	not provided	2018-07-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29353225, 23593297, 26690388, 26612772, 29036232, 27516387, 29083407, 30526649, 30420299)
Ambry Genetics	RCV002401954	SCV002705760	benign	Cardiovascular phenotype	2016-10-04	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	RCV000243074	SCV000605979	benign	not specified		no assertion criteria provided	research
Pharmacogenomics Lab, Chungbuk National University	RCV000845575	SCV000889940	drug response	Warfarin response	2010-08-31	no assertion criteria provided	research