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

Total submissions: 7

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: 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	RCV003902619	SCV004721398	likely benign	APOB-related condition	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).