ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) (rs141155833)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408811 SCV000484770 uncertain significance Familial hypercholesterolemia 1 2019-08-22 criteria provided, single submitter clinical testing
Invitae RCV000816915 SCV000957444 uncertain significance Familial hypercholesterolemia 2019-02-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 623 of the LDLR protein (p.Ile623Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs141155833, ExAC 0.003%). This variant has been observed in individuals affected with hypercholesterolemia (PMID: 27765764). ClinVar contains an entry for this variant (Variation ID: 369855). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Color RCV000816915 SCV001355019 uncertain significance Familial hypercholesterolemia 2019-06-17 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000408811 SCV000606547 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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