ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)

gnomAD frequency: 0.00091  dbSNP: rs72653078
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273079 SCV000427096 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307155 SCV000427097 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001837864 SCV000777080 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV002275025 SCV002562612 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002356460 SCV002624948 uncertain significance Cardiovascular phenotype 2019-07-16 criteria provided, single submitter clinical testing The p.L1238I variant (also known as c.3712C>A), located in coding exon 24 of the APOB gene, results from a C to A substitution at nucleotide position 3712. The leucine at codon 1238 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well 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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