ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu) (rs768045701)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494309 SCV000583313 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The D1997E variant has not been published as pathogenic or been reported as benign to our knowledge. Additionally, 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). However, D1997E is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution also occurs at a position that is not conserved across species and glutamic acid (E) is the wild-type residue at this position in multiple mammalian species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.

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