ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9407G>A (p.Arg3136His)

gnomAD frequency: 0.00006  dbSNP: rs199590149
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758758 SCV000887573 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Invitae RCV001838131 SCV001533211 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000758758 SCV001997673 uncertain significance not provided 2020-01-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported as a variant of uncertain significance by another clinical laboratory in ClinVar (ClinVar Variant ID# 619615; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002370013 SCV002683789 uncertain significance Cardiovascular phenotype 2021-12-20 criteria provided, single submitter clinical testing The p.R3136H variant (also known as c.9407G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 9407. The arginine at codon 3136 is replaced by histidine, an amino acid with highly similar properties. 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.
Fulgent Genetics, Fulgent Genetics RCV001838131 SCV002775653 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-21 criteria provided, single submitter clinical testing

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