ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala)

gnomAD frequency: 0.00002  dbSNP: rs138850232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990989 SCV002261035 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-09-05 criteria provided, single submitter clinical testing
New York Genome Center RCV001990989 SCV004046461 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004989019 SCV005475428 likely benign Cardiovascular phenotype 2024-11-13 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.

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