Submissions for variant NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)

gnomAD frequency: 0.00007  dbSNP: rs149660265

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000497094	SCV000588429	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837932	SCV001214173	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001770377	SCV002004055	uncertain significance	not provided	2021-10-28	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in a cohort of individuals with nonalcoholic fatty liver disease/hepatocellular carcinoma and detailed clinical information was not provided (Pelusi et al., 2019); Also known as R1137G; This variant is associated with the following publications: (PMID: 30842500)
Ambry Genetics	RCV002455956	SCV002616093	likely benign	Cardiovascular phenotype	2024-07-31	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.
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan	RCV001027454	SCV001190022	likely pathogenic	Familial hypobetalipoproteinemia 1	2018-12-01	no assertion criteria provided	case-control