ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12280G>A (p.Gly4094Arg)

gnomAD frequency: 0.00004  dbSNP: rs372357954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838383 SCV001419305 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365855 SCV002663843 uncertain significance Cardiovascular phenotype 2022-05-15 criteria provided, single submitter clinical testing The p.G4094R variant (also known as c.12280G>A), located in coding exon 29 of the APOB gene, results from a G to A substitution at nucleotide position 12280. The glycine at codon 4094 is replaced by arginine, an amino acid with dissimilar 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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