ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6943G>A (p.Glu2315Lys)

gnomAD frequency: 0.00001  dbSNP: rs1223711938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660698 SCV000782878 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026063 SCV003531380 uncertain significance Cardiovascular phenotype 2023-04-13 criteria provided, single submitter clinical testing The p.E2315K variant (also known as c.6943G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 6943. The glutamic acid at codon 2315 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.

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