ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4304del (p.Ile1435fs)

dbSNP: rs1663355633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002558787 SCV003310867 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1435Thrfs*6) in the APOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial hypobetalipoproteinemia (PMID: 12124991). This variant is also known as 4432delT. ClinVar contains an entry for this variant (Variation ID: 918183). For these reasons, this variant has been classified as Pathogenic.

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