ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3283G>A (p.Asp1095Asn)

gnomAD frequency: 0.00001  dbSNP: rs1377332778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838016 SCV000777011 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-05-22 criteria provided, single submitter clinical testing
GeneDx RCV003106013 SCV003761952 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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