ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)

gnomAD frequency: 0.00003  dbSNP: rs376974746
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660702 SCV000782887 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV001838085 SCV000934706 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261165 SCV002541789 uncertain significance not provided 2021-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369785 SCV002684495 uncertain significance Cardiovascular phenotype 2021-04-29 criteria provided, single submitter clinical testing The p.L2898P variant (also known as c.8693T>C), located in coding exon 26 of the APOB gene, results from a T to C substitution at nucleotide position 8693. The leucine at codon 2898 is replaced by proline, an amino acid with similar 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 RCV001838085 SCV002790426 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-07 criteria provided, single submitter clinical testing

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