ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10476T>A (p.Ile3492=)

gnomAD frequency: 0.00021  dbSNP: rs139929439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838164 SCV001006430 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388400 SCV002703371 uncertain significance Cardiovascular phenotype 2020-06-08 criteria provided, single submitter clinical testing The c.10476T>A variant (also known as p.I3492I), located in coding exon 26 of the APOB gene, results from a T to A substitution at nucleotide position 10476. This nucleotide substitution does not change the at codon 3492. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003908085 SCV004726016 likely benign APOB-related condition 2023-07-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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