ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)

gnomAD frequency: 0.00001  dbSNP: rs762255105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388755 SCV000426958 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296802 SCV000426959 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356457 SCV002621633 uncertain significance Cardiovascular phenotype 2024-05-22 criteria provided, single submitter clinical testing The p.I3855V variant (also known as c.11563A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 11563. The isoleucine at codon 3855 is replaced by valine, 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.

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