ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1343C>T (p.Ala448Val)

gnomAD frequency: 0.00012  dbSNP: rs148167725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838410 SCV001513419 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379726 SCV002693678 uncertain significance Cardiovascular phenotype 2020-06-29 criteria provided, single submitter clinical testing The p.A448V variant (also known as c.1343C>T), located in coding exon 10 of the APOB gene, results from a C to T substitution at nucleotide position 1343. The alanine at codon 448 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly 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.

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