ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.819-2A>G

dbSNP: rs1572800245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851949 SCV002286137 likely pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-07-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the APOB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with homozygous familial hypobetalipoproteinemia (PMID: 11940084). ClinVar contains an entry for this variant (Variation ID: 17898). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000019487 SCV000039784 pathogenic Familial hypobetalipoproteinemia 2002-02-01 no assertion criteria provided literature only

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