ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.307T>C (p.Tyr103His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440258 SCV000534848 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing The Y103H variant in the APOB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not observed in the homozygous state, the NHLBI ESP Exome Sequencing Project reports Y103H was observed in 14/4406 (0.32%) alleles from individuals of African American background, indicating it may be a rare variant in this population. The Y103H 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. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret Y103H as a variant of uncertain significance.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497185 SCV000588413 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001087989 SCV000777068 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000771618 SCV000904222 likely benign Familial hypercholesterolemia 2018-03-23 criteria provided, single submitter clinical testing

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