ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1648G>C (p.Asp550His) (rs145862664)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489633 SCV000576839 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The D550H variant has not been published as pathogenic or been reported as benign to our knowledge. The D550H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species and histidine (H) is the wild-type residue at this position in at least one mammalian species. Additionally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, the D550H variant has been observed in 27/8624 (0.31%) alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Invitae RCV000655145 SCV000777070 likely benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-11-11 criteria provided, single submitter clinical testing
Color RCV000775578 SCV000909942 likely benign Familial hypercholesterolemias 2018-04-07 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000417290 SCV000503538 likely benign Hypercholesterolemia 2016-08-01 no assertion criteria provided research Found in patient having exome sequencing for an unrelated indication. No known history hypercholesterolemia.

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