ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6868G>A (p.Glu2290Lys)

gnomAD frequency: 0.00004  dbSNP: rs139857448
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002370046 SCV002667653 uncertain significance Cardiovascular phenotype 2021-07-08 criteria provided, single submitter clinical testing The p.E2290K variant (also known as c.6868G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 6868. The glutamic acid at codon 2290 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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.
Invitae RCV002535538 SCV003289211 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-21 criteria provided, single submitter clinical testing

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