ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2312C>T (p.Pro771Leu)

gnomAD frequency: 0.00007  dbSNP: rs200524554
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838454 SCV001394937 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262466 SCV001440358 uncertain significance Hypercholesterolemia, autosomal dominant, type B 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447120 SCV002734362 uncertain significance Cardiovascular phenotype 2022-03-11 criteria provided, single submitter clinical testing The p.P771L variant (also known as c.2312C>T), located in coding exon 16 of the APOB gene, results from a C to T substitution at nucleotide position 2312. The proline at codon 771 is replaced by leucine, 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.
Fulgent Genetics, Fulgent Genetics RCV001838454 SCV002787863 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-03 criteria provided, single submitter clinical testing
GeneDx RCV003327498 SCV004034756 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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