ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4676C>T (p.Ala1559Val)

dbSNP: rs549741449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838278 SCV001013565 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800900 SCV002046471 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336830 SCV002638249 likely benign Cardiovascular phenotype 2020-03-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001800900 SCV003761577 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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