ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1316G>A (p.Arg439Gln)

gnomAD frequency: 0.00010  dbSNP: rs61742990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772033 SCV001994227 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002386351 SCV002694692 uncertain significance Cardiovascular phenotype 2023-03-18 criteria provided, single submitter clinical testing The p.R439Q variant (also known as c.1316G>A), located in coding exon 10 of the APOB gene, results from a G to A substitution at nucleotide position 1316. The arginine at codon 439 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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 RCV002487592 SCV002794496 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-21 criteria provided, single submitter clinical testing
Invitae RCV002487592 SCV004609197 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-31 criteria provided, single submitter clinical testing

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