ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.433C>G (p.Pro145Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468512 SCV002764470 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-12-10 criteria provided, single submitter clinical testing The c.433C>G (p.Pro145Ala) variant identified in the APOB gene substitutes a conserved Proline for Alanine at amino acid 145/4564 (exon 5/29). This variant is absent from gnomAD(v3.1.2) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Tolerated (SIFT; score:0.056) and Benign (REVEL; 0.215) to the function of the canonical transcript. This variant is absent from ClinVar, and to our current knowledge has not been reported in individuals with hypercholesterolemia. Given the lack of compelling evidence for its pathogenicity, the c.433C>G (p.Pro145Ala) variant identified in the APOB gene is reported as a Variant of Uncertain Significance.

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