ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5459A>C (p.Lys1820Thr) (rs180874451)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485194 SCV000573458 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing The K1820T variant of uncertain significance in the APOB gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In addition, in silico analysis predicts K1820T is probably damaging to the protein structure/function. The K1820T variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution also occurs at a position that is conserved in mammals; however, T1820 is tolerated in at least one species. Furthermore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with hypercholesterolemia (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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