ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12736T>G (p.Phe4246Val)

gnomAD frequency: 0.00007  dbSNP: rs200260789
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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 RCV001256758 SCV001433169 likely benign not specified 2019-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370043 SCV002685617 uncertain significance Cardiovascular phenotype 2019-06-17 criteria provided, single submitter clinical testing The p.F4246V variant (also known as c.12736T>G), located in coding exon 29 of the APOB gene, results from a T to G substitution at nucleotide position 12736. The phenylalanine at codon 4246 is replaced by valine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002535534 SCV003325581 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-08 criteria provided, single submitter clinical testing

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