ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13448C>T (p.Ala4483Val)

gnomAD frequency: 0.00003  dbSNP: rs147416761
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837772 SCV000284762 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-08-21 criteria provided, single submitter clinical testing
GeneDx RCV002466475 SCV002762348 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001837772 SCV002789513 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165602 SCV003856466 uncertain significance Cardiovascular phenotype 2022-12-18 criteria provided, single submitter clinical testing The p.A4483V variant (also known as c.13448C>T), located in coding exon 29 of the APOB gene, results from a C to T substitution at nucleotide position 13448. The alanine at codon 4483 is replaced by valine, an amino acid with 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.

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