ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg)

gnomAD frequency: 0.00001  dbSNP: rs760203474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002370047 SCV002625116 uncertain significance Cardiovascular phenotype 2023-01-05 criteria provided, single submitter clinical testing The p.G1327R variant (also known as c.3979G>A), located in coding exon 25 of the APOB gene, results from a G to A substitution at nucleotide position 3979. The glycine at codon 1327 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
Fulgent Genetics, Fulgent Genetics RCV002477774 SCV002775227 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-05 criteria provided, single submitter clinical testing
Invitae RCV002477774 SCV003253008 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-18 criteria provided, single submitter clinical testing

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