ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11819C>T (p.Thr3940Met)

gnomAD frequency: 0.00161  dbSNP: rs72654416
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613830 SCV000720032 likely benign not specified 2017-06-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001838009 SCV000777098 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341569 SCV002636841 benign Cardiovascular phenotype 2017-06-22 criteria provided, single submitter clinical testing This alteration is classified as 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478326 SCV004220808 likely benign not provided 2022-12-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003478326 SCV005262619 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004530780 SCV004744392 likely benign APOB-related disorder 2023-12-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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