ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2160C>T (p.Tyr720=)

gnomAD frequency: 0.00008  dbSNP: rs756184175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330977 SCV000427146 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385435 SCV000427147 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001837875 SCV001008079 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429299 SCV002731298 likely benign Cardiovascular phenotype 2022-08-24 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.

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