ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.690C>A (p.Gly230=)

gnomAD frequency: 0.00002  dbSNP: rs151096846
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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 RCV001837986 SCV000659297 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-16 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000660697 SCV000782877 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024410 SCV005035150 likely benign Cardiovascular phenotype 2023-02-12 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 RCV004820054 SCV005441575 likely benign Familial hypercholesterolemia 2024-06-19 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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