ClinVar Miner

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

dbSNP: rs121918387
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Total submissions: 3
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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
Invitae RCV002496419 SCV004569107 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-12-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17892). This variant is also known as a single nucleotide deletion in exon 26 (cDNA nucleotide 9327). This premature translational stop signal has been observed in individual(s) with hypobetalipoproteinemia (PMID: 2022744). This variant is not present in population databases (gnomAD no frequency). 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).
OMIM RCV000019481 SCV000039777 pathogenic Familial hypobetalipoproteinemia 1991-05-01 no assertion criteria provided literature only

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