ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1595G>A (p.Arg532Gln)

gnomAD frequency: 0.00002  dbSNP: rs753831464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837944 SCV001532430 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001837944 SCV002776117 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302746 SCV004000636 uncertain significance Cardiovascular phenotype 2023-04-30 criteria provided, single submitter clinical testing The p.R532Q variant (also known as c.1595G>A), located in coding exon 12 of the APOB gene, results from a G to A substitution at nucleotide position 1595. The arginine at codon 532 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508794 SCV000605978 benign not specified no assertion criteria provided research

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