ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9080G>A (p.Gly3027Glu)

dbSNP: rs757895045
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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 RCV001838021 SCV000777017 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-11-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 3027 of the APOB protein (p.Gly3027Glu). This variant is present in population databases (rs757895045, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with APOB-related conditions. ClinVar contains an entry for this variant (Variation ID: 544072). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt APOB protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002442372 SCV002682827 uncertain significance Cardiovascular phenotype 2020-10-07 criteria provided, single submitter clinical testing The p.G3027E variant (also known as c.9080G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 9080. The glycine at codon 3027 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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