ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12382G>A (p.Val4128Met)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436564 SCV000525848 benign not specified 2016-11-21 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.
Invitae RCV001837894 SCV000554834 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497067 SCV000588460 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000497067 SCV000607387 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute, Western University RCV000497067 SCV000782807 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758754 SCV000887568 benign not provided 2022-11-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771084 SCV000902627 benign Familial hypercholesterolemia 2018-06-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000758754 SCV001152107 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing APOB: BP4, BS2
Illumina Laboratory Services, Illumina RCV001143429 SCV001303956 likely benign Hypercholesterolemia, autosomal dominant, type B 2018-05-11 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV002365513 SCV002662672 benign Cardiovascular phenotype 2016-01-12 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 RCV000758754 SCV004563075 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000758754 SCV001742819 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000436564 SCV001923231 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000758754 SCV001967147 likely benign not provided no assertion criteria provided clinical testing

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