ClinVar Miner

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

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Total submissions: 5
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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 2023-06-28 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 uncertain significance Cardiovascular phenotype 2021-06-10 criteria provided, single submitter clinical testing The p.R1164G variant (also known as c.3490A>G), located in coding exon 22 of the APOB gene, results from an A to G substitution at nucleotide position 3490. The arginine at codon 1164 is replaced by glycine, an amino acid with dissimilar properties. Another alteration affecting the same amino acid, p.R1164T (c.3491G>C), has been reported in association with familial hypercholesterolemia (FH) (Alves AC et al. Hum. Mol. Genet., 2014 Apr;23:1817-28). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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

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