Submissions for variant NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)

gnomAD frequency: 0.00305  dbSNP: rs1801696

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Integrative and Experimental Genomics, University of Luebeck	RCV000172967	SCV000212145	likely benign	Hypercholesterolemia, familial, 1		criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV000246092	SCV000303951	likely benign	not specified		criteria provided, single submitter	clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000172967	SCV000322848	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Robarts Research Institute, Western University	RCV000172967	SCV000484824	likely benign	Hypercholesterolemia, familial, 1	2019-08-22	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000246092	SCV000538310	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.9% (61/6612) Finnish chromosomes
Invitae	RCV001837739	SCV000554815	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000246092	SCV000593265	uncertain significance	not specified	2015-12-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000246092	SCV000730567	likely benign	not specified	2017-09-06	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759464	SCV000888792	benign	not provided	2022-08-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000759464	SCV001152136	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	APOB: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001142271	SCV001302691	uncertain significance	Hypercholesterolemia, autosomal dominant, type B	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001142272	SCV001302692	uncertain significance	Familial hypobetalipoproteinemia 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000759464	SCV002048329	benign	not provided	2023-08-23	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital Muenster	RCV004584360	SCV002506422	uncertain significance	See cases	2021-12-08	criteria provided, single submitter	clinical testing	ACMG categories: PM2,PP3
Ambry Genetics	RCV002399600	SCV002668780	likely benign	Cardiovascular phenotype	2021-11-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genetics and Molecular Pathology, SA Pathology	RCV001142271	SCV002761900	benign	Hypercholesterolemia, autosomal dominant, type B	2021-09-22	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000759464	SCV001743862	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246092	SCV001919040	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000759464	SCV001972415	likely benign	not provided		no assertion criteria provided	clinical testing