ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10479G>A (p.Glu3493=)

gnomAD frequency: 0.00102  dbSNP: rs113096093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837958 SCV000659247 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395492 SCV002703375 likely benign Cardiovascular phenotype 2018-08-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478198 SCV004220716 benign not provided 2023-04-13 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820049 SCV005441614 likely benign Familial hypercholesterolemia 2023-11-29 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 and has a PopMax FAF which is greater than expected for this disorder. Therefore this variant has been classified as Likely Benign (BS1, BP4, BP7).

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