ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8851G>A (p.Glu2951Lys)

gnomAD frequency: 0.00001  dbSNP: rs755952082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838456 SCV001400800 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2951 of the APOB protein (p.Glu2951Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs755952082, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with APOB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001838456 SCV002786987 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986979 SCV005470589 uncertain significance Cardiovascular phenotype 2024-08-11 criteria provided, single submitter clinical testing The p.E2951K variant (also known as c.8851G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 8851. The glutamic acid at codon 2951 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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