ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3927T>A (p.Asp1309Glu)

dbSNP: rs966817615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256753 SCV001433162 uncertain significance Hypercholesterolemia, familial, 1 2019-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375313 SCV002624924 uncertain significance Cardiovascular phenotype 2022-08-30 criteria provided, single submitter clinical testing The p.D1309E variant (also known as c.3927T>A), located in coding exon 25 of the APOB gene, results from a T to A substitution at nucleotide position 3927. The aspartic acid at codon 1309 is replaced by glutamic acid, an amino acid with highly similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770332 SCV004570574 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-20 criteria provided, single submitter clinical testing

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