ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1836C>A (p.Ala612=) (rs143872778)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000508762 SCV000627023 uncertain significance Familial hypercholesterolemia 1 2017-05-30 criteria provided, single submitter clinical testing This sequence change affects codon 612 of the LDLR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LDLR protein. This variant is present in population databases (rs143872778, ExAC 0.02%). This variant has been reported in an individual affected with hypercholesterolemia (PMID: 20145306). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on LDLR function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV001188069 SCV001355015 likely benign Familial hypercholesterolemia 2017-07-17 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508762 SCV000606530 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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