Submissions for variant NM_000384.3(APOB):c.8353A>C (p.Asn2785His)

gnomAD frequency: 0.00306  dbSNP: rs2163204

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203055	SCV000257687	benign	Hypercholesterolemia, familial, 1	2015-05-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265873	SCV000427016	likely benign	Familial hypobetalipoproteinemia 1	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 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	RCV001094631	SCV000427017	benign	Hypercholesterolemia, autosomal dominant, type B	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.
Robarts Research Institute, Western University	RCV000203055	SCV000484832	benign	Hypercholesterolemia, familial, 1	2019-08-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837755	SCV000554813	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2025-02-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776025	SCV000910596	benign	Familial hypercholesterolemia	2018-03-07	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845554	SCV000987676	uncertain significance	not provided		criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000845554	SCV001133425	benign	not provided	2023-07-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000845554	SCV001948662	benign	not provided	2018-08-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433896	SCV002680585	benign	Cardiovascular phenotype	2016-07-15	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000845554	SCV004563939	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV000776025	SCV005074042	benign	Familial hypercholesterolemia	2022-11-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699065	SCV001920825	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001699065	SCV001962888	benign	not specified		no assertion criteria provided	clinical testing