ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8877G>A (p.Leu2959=)

gnomAD frequency: 0.00012  dbSNP: rs765899256
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584616 SCV000687272 likely benign Hypercholesterolemia, familial, 1 2017-09-29 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000584616 SCV000782888 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001838003 SCV001011451 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377203 SCV002685309 likely benign Cardiovascular phenotype 2019-03-18 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.
GENinCode PLC RCV004820060 SCV005441623 likely benign Familial hypercholesterolemia 2023-09-26 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved and has a PopMax FAF which is greater than expected for this disorder. Therefore this variant has been classified as Likely Benign (BS1, BP4, BP7).
PreventionGenetics, part of Exact Sciences RCV004543285 SCV004791982 benign APOB-related disorder 2019-02-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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