ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9200del (p.Lys3067fs)

dbSNP: rs121918387
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496419 SCV002806017 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002496419 SCV004569107 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys3067Argfs*2) 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 hypobetalipoproteinemia (PMID: 2022744). This variant is also known as a single nucleotide deletion in exon 26 (cDNA nucleotide 9327). ClinVar contains an entry for this variant (Variation ID: 17892). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV005003395 SCV005628314 pathogenic not provided 2024-07-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as apo B67; This variant is associated with the following publications: (PMID: 34570182, 2022744)
OMIM RCV000019481 SCV000039777 pathogenic Familial hypobetalipoproteinemia 1991-05-01 no assertion criteria provided literature only

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