ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497091 SCV000588432 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Ambry Genetics RCV002356811 SCV002621505 uncertain significance Cardiovascular phenotype 2022-09-26 criteria provided, single submitter clinical testing The p.R1284W variant (also known as c.3850C>T), located in coding exon 25 of the APOB gene, results from a C to T substitution at nucleotide position 3850. The arginine at codon 1284 is replaced by tryptophan, an amino acid with dissimilar 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002475982 SCV002803222 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-01 criteria provided, single submitter clinical testing
Invitae RCV002475982 SCV004573113 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-13 criteria provided, single submitter clinical testing

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