ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9727C>T (p.Pro3243Ser)

gnomAD frequency: 0.00001  dbSNP: rs372260836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838450 SCV001391677 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 3243 of the APOB protein (p.Pro3243Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs372260836, ExAC 0.002%). This missense change has been observed in individuals with clinical features of familial hypercholesterolemia and hypertriglyceridemia (PMID: 20657596; Invitae). This variant is also known as p.P3216S. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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