ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1853C>T (p.Ala618Val)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116384 SCV000303934 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256290 SCV000322835 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000295735 SCV000427148 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001094640 SCV000427149 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000116384 SCV000519196 benign not specified 2016-10-18 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.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256290 SCV000588420 benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000256290 SCV000687213 benign Hypercholesterolemia, familial, 1 2017-06-26 criteria provided, single submitter clinical testing
Mendelics RCV000256290 SCV001135626 benign Hypercholesterolemia, familial, 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001837455 SCV001728418 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094640 SCV001774906 benign Hypercholesterolemia, autosomal dominant, type B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000295735 SCV001774907 benign Familial hypobetalipoproteinemia 1 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408617 SCV002716517 benign Cardiovascular phenotype 2015-12-08 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.
GENinCode PLC RCV000771026 SCV005061704 benign Familial hypercholesterolemia 2024-06-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116384 SCV000150308 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Pharmacogenomics Lab, Chungbuk National University RCV000845574 SCV000889939 drug response Warfarin response 2010-08-31 no assertion criteria provided research In patients receiving warfarin after mechanical valve replacement, G allele carriers of rs679899 had 6.4 times increased risk of bleeding.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116384 SCV001739556 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000116384 SCV001925630 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000771026 SCV003836784 benign Familial hypercholesterolemia 2023-02-09 no assertion criteria provided clinical testing

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