ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11233G>A (p.Val3745Ile)

gnomAD frequency: 0.00009  dbSNP: rs147564959
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838160 SCV000947798 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-11 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270141 SCV001449037 uncertain significance Familial hypobetalipoproteinemia 1 2019-08-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508057 SCV001713958 uncertain significance not provided 2020-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001508057 SCV001815128 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002440612 SCV002746208 uncertain significance Cardiovascular phenotype 2022-01-18 criteria provided, single submitter clinical testing The p.V3745I variant (also known as c.11233G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 11233. The valine at codon 3745 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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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