ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9242G>C (p.Ser3081Thr) (rs72653100)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522174 SCV000621874 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the APOB gene. The S3081T variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 28/24,024 alleles (0.12%) from individuals of African ancestry in large population cohorts (Lek et al., 2016). The S3081T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function.
Color RCV000775478 SCV000909841 uncertain significance Familial hypercholesterolemia 2019-03-28 criteria provided, single submitter clinical testing
Invitae RCV001079183 SCV001012593 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing

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