ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-153C>T (rs879254366)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000775251 SCV000909510 uncertain significance Familial hypercholesterolemias 2018-10-02 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is located in the conserved sterol-dependent regulatory element 2 (SRE2) in the promoter region of the LDLR gene. This variant is also known as -60C>T based on the position calculated from the transcription start site (PMID: 15303010). A luciferase-based functional assay has suggested that this variant may reduce LDLR promoter activity significantly but actual data were not shown (PMID: 15303010). To our knowledge, it has not been shown whether this variant results in reduced LDLR expression and function in individuals carrying this variant. This variant has been reported in one or more Czech individual affected with familial hypercholesterolemia (PMID: 15303010, 21310417, 22698793). This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
LDLR-LOVD, British Heart Foundation RCV000238251 SCV000294379 uncertain significance Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000238251 SCV000540708 likely pathogenic Familial hypercholesterolemia 2016-11-05 criteria provided, single submitter clinical testing Disrupt Sterol Regulatory Element sequence.

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