ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4819G>A (p.Glu1607Lys)

gnomAD frequency: 0.00005  dbSNP: rs149040065
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002560835 SCV003468628 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-07-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1607 of the APOB protein (p.Glu1607Lys). This variant is present in population databases (rs149040065, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of autosomal dominant APOB-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 922743). 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 lysine 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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