ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5044A>G (p.Met1682Val)

gnomAD frequency: 0.00009  dbSNP: rs140858817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869105 SCV002275809 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027291 SCV003543673 likely benign Cardiovascular phenotype 2021-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
GeneDx RCV003318635 SCV004022938 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003318635 SCV005624820 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing The APOB c.5044A>G (p.Met1682Val) variant has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.00012 (3/24962 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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