ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) (rs368278927)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000775455 SCV000909818 uncertain significance Familial hypercholesterolemia 2019-09-09 criteria provided, single submitter clinical testing
Invitae RCV001038530 SCV001202004 uncertain significance Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-02-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 3567 of the APOB protein (p.Thr3567Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs368278927, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 17964958, 23775634, 18325181). This variant is also known as c.10828C>T, p.Thr3540Met in the literature. ClinVar contains an entry for this variant (Variation ID: 440520). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508852 SCV000605961 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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