ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12381C>T (p.Asp4127=)

gnomAD frequency: 0.00005  dbSNP: rs145704672
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838258 SCV001005113 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000864324 SCV001133391 likely benign not provided 2019-04-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000864324 SCV001335088 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372413 SCV002668321 likely benign Cardiovascular phenotype 2018-12-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GENinCode PLC RCV004820127 SCV005441592 likely benign Familial hypercholesterolemia 2024-07-10 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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