ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)

dbSNP: rs375894411
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333253 SCV000427100 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385388 SCV000427101 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000333253 SCV000782847 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV001837865 SCV001007336 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450903 SCV002615251 likely benign Cardiovascular phenotype 2022-02-16 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477899 SCV004222003 uncertain significance not provided 2023-05-19 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.00069 (21/30616 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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