ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13377T>C (p.Asp4459=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387607 SCV002690380 likely benign Cardiovascular phenotype 2021-06-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774269 SCV004610955 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-23 criteria provided, single submitter clinical testing
GENinCode PLC RCV004999735 SCV005620371 likely benign Familial hypercholesterolemia 2025-01-09 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not highly conserved. This variant has been classified as Likely Benign (BP4, BP7).

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