ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.967G>A (p.Glu323Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003780212 SCV004603668 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004661767 SCV005154841 uncertain significance Cardiovascular phenotype 2024-06-05 criteria provided, single submitter clinical testing The p.E323K variant (also known as c.967G>A), located in coding exon 9 of the APOB gene, results from a G to A substitution at nucleotide position 967. The glutamic acid at codon 323 is replaced by lysine, an amino acid with 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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