ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.307T>C (p.Tyr103His)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440258 SCV000534848 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing Identified in three related individuals with elevated cholesterol referred for genetic testing at GeneDx; 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; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 391716; ClinVar)
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497185 SCV000588413 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001837898 SCV000777068 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000440258 SCV001469336 likely benign not provided 2023-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319495 SCV002608818 benign Cardiovascular phenotype 2021-08-04 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.
New York Genome Center RCV001837898 SCV002764483 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533124 SCV004721398 likely benign APOB-related disorder 2023-05-30 criteria provided, single submitter 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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