ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1010T>A (p.Ile337Asn)

gnomAD frequency: 0.00012  dbSNP: rs148126873
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838122 SCV000835906 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001838122 SCV002775831 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026732 SCV003738249 uncertain significance Cardiovascular phenotype 2023-07-06 criteria provided, single submitter clinical testing The p.I337N variant (also known as c.1010T>A), located in coding exon 9 of the APOB gene, results from a T to A substitution at nucleotide position 1010. The isoleucine at codon 337 is replaced by asparagine, an amino acid with dissimilar 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004997215 SCV005624768 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing The APOB c.1010T>A (p.Ile337Asn) variant has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.0002 (5/24960 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV004026732 SCV006067213 uncertain significance Cardiovascular phenotype 2025-04-09 criteria provided, single submitter clinical testing

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