ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5490C>T (p.Ala1830=)

gnomAD frequency: 0.00001  dbSNP: rs886055585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002348596 SCV002654364 likely benign Cardiovascular phenotype 2021-11-19 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003737019 SCV004565332 likely benign not provided 2023-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769865 SCV004574861 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-05-13 criteria provided, single submitter clinical testing
GENinCode PLC RCV004998677 SCV005620391 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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