ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3383G>A (p.Arg1128His) (rs12713843)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723752 SCV000331502 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000295629 SCV000538318 likely 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: 0.7% (116/16506) South Asian chromosomes
Invitae RCV001080860 SCV000659280 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578081 SCV000679805 uncertain significance Familial hypercholesterolemia 2 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577967 SCV000679806 uncertain significance Hypobetalipoproteinemia, familial, 1 2017-08-01 criteria provided, single submitter clinical testing
Color RCV000583315 SCV000687231 likely benign Familial hypercholesterolemia 1 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000295629 SCV000730570 likely benign not specified 2018-01-25 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.
Robarts Research Institute,Western University RCV000583315 SCV000782840 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771086 SCV000902636 benign Familial hypercholesterolemia 2018-06-28 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845396 SCV000987460 likely benign Familial dilated cardiomyopathy criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000723752 SCV001133405 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Mendelics RCV000583315 SCV001135625 uncertain significance Familial hypercholesterolemia 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723752 SCV001152158 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000578081 SCV001297957 uncertain significance Familial hypercholesterolemia 2 2018-05-18 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.
Broad Institute Rare Disease Group,Broad Institute RCV000578081 SCV001422586 likely benign Familial hypercholesterolemia 2 2020-01-22 no assertion criteria provided curation The p.Arg1128His variant in APOB has been reported in 2 Caucasian individuals suspected to have familial hypercholesterolemia (DOI: 10.1016/S0735-1097(18)32309-X), and has been identified in 0.7219% (221/30614) of South Asian chromosomes, including 6 homozygotes, 0.4949% (639/129122) of European (non-Finnish) chromosomes, including 3 homozygotes, and 0.3753% (133/35438) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs12713843). This variant has also been reported in ClinVar as a VUS, likely benign, and benign variant (Variation ID: 281142). Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely benign. ACMG/AMP Criteria applied: BS1, BP4 (Richards 2015).

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