ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4187T>C (p.Val1396Ala) (rs144034290)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497687 SCV000590734 uncertain significance not provided 2018-12-20 criteria provided, single submitter clinical testing The V1396A variant has not been publishedas pathogenic or been reported as benign to our knowledge. This variant is a conservative amino acid substitution,which is not likely to impact secondary protein structure as these residues share similar properties. In addition, thissubstitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likelydoes not alter the protein structure/function. Finally, V1396A is reported in 8/10406 (0.08%) alleles from individualsof African ancestry in the ExAC dataset; no homozygous individuals have been reported (Lek et al., 2016; 1000Genomes Consortium et al., 2015; Exome Variant Server).
Invitae RCV001078481 SCV001129648 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing

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