ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256319 SCV000322841 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/176 non-FH alleles
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256319 SCV000588430 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Mendelics RCV002248496 SCV002516912 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450793 SCV002615786 uncertain significance Cardiovascular phenotype 2024-08-05 criteria provided, single submitter clinical testing The p.R1164T variant (also known as c.3491G>C), located in coding exon 22 of the APOB gene, results from a G to C substitution at nucleotide position 3491. The arginine at codon 1164 is replaced by threonine, an amino acid with similar properties. This variant has been detected in individuals with features consistent with familial hypercholesterolemia (FH) (Alves AC et al. Hum Mol Genet, 2014 Apr;23:1817-28; Ambry internal data). In assays testing APOB function, this variant showed functionally abnormal results (Alves AC et al. Hum Mol Genet, 2014 Apr;23:1817-28; Fernández-Higuero JA et al. Sci Rep, 2015 Dec;5:18184). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant is unclear for autosomal dominant familial hypercholesterolemia; however, it is unlikely to be causative of autosomal recessive hypobetalipoproteinemia.
GeneDx RCV003236794 SCV003935728 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies suggest a damaging effect on binding and internalization of LDL (Alves et al., 2014); This variant is associated with the following publications: (PMID: 26643808, 26020417, 24234650, 32719484)
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000256319 SCV004183378 likely pathogenic Hypercholesterolemia, familial, 1 2019-09-30 criteria provided, single submitter clinical testing ACMG classification criteria: PS3, PM2

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