ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5116dup (p.Thr1706fs)

dbSNP: rs1553383931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470110 SCV000541946 pathogenic Familial hypobetalipoproteinemia 1 2016-07-31 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 26 of the APOB mRNA (c.5116dupA), causing a frameshift at codon 1706. This creates a premature translational stop signal (p.Thr1706Asnfs*32) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in APOB are known to be pathogenic in the context of hypobetalipoproteinemia (PMID: 17570373, 22855658). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001837914 SCV001588675 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2016-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in APOB are known to be pathogenic in the context of hypobetalipoproteinemia (PMID: 17570373, 22855658). This sequence change inserts 1 nucleotide in exon 26 of the APOB mRNA (c.5116dupA), causing a frameshift at codon 1706. This creates a premature translational stop signal (p.Thr1706Asnfs*32) and is expected to result in an absent or disrupted protein product.

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