ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497215 SCV000588419 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001837744 SCV000777091 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-21 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845454 SCV000987543 likely benign not provided criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138594 SCV001298658 uncertain significance Familial hypobetalipoproteinemia 1 2018-08-30 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 RCV001138595 SCV001298659 benign Hypercholesterolemia, autosomal dominant, type B 2018-08-30 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000845454 SCV001469333 benign not provided 2023-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390448 SCV002703300 likely benign Cardiovascular phenotype 2019-07-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000845454 SCV004562380 benign not provided 2023-09-20 criteria provided, single submitter clinical testing

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