ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys)

gnomAD frequency: 0.00004  dbSNP: rs754565622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000408831 SCV000484836 uncertain significance Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823727 SCV002073409 uncertain significance not specified 2022-01-18 criteria provided, single submitter clinical testing This missense variant results in an amino acid substitution of Arginine with Cysteine at codon 2444 of the APOB gene (transcript: NM_000384.2). This variant has an entry in ClinVar (369884) NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys). This variant occurred in gnomAD with a total MAF of 0 0.0086%and with the highest MAF of 0.0149% in the Latin American population. This position is not conserved. In silico functional algorithms predict this variant to be benign (PolyPhen) and damaging (SIFT). However, no functional studies were performed to confirm either of those predictions. The variant has not occurred in the literature in association with the disease. Considering that this is a rare variant and the available evidence is not enough to ascertain its role in disease, it has been classified as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002524613 SCV003350499 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-31 criteria provided, single submitter clinical testing

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