ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1216C>T (p.Leu406Phe)

gnomAD frequency: 0.00001  dbSNP: rs1663905539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002483943 SCV002790280 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032985 SCV005034703 uncertain significance Cardiovascular phenotype 2024-01-22 criteria provided, single submitter clinical testing The p.L406F variant (also known as c.1216C>T), located in coding exon 10 of the APOB gene, results from a C to T substitution at nucleotide position 1216. The leucine at codon 406 is replaced by phenylalanine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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