ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-88G>A

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237254 SCV000294397 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237254 SCV000588477 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV001526179 SCV001736480 uncertain significance Familial hypercholesterolemia 2023-03-01 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the LDLR gene. Functional studies have shown that this variant does not affect nuclear protein binding affinity in the promoter region and does not impact on transcriptional activity (PMID: 21538688, 31395865). This variant has been reported in an individual affected with familial hypercholesterolemia (PMID: 21538688). This variant has been identified in 11/31396 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001526179 SCV002360143 benign Familial hypercholesterolemia 2024-01-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000237254 SCV004818857 uncertain significance Hypercholesterolemia, familial, 1 2024-02-05 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the LDLR gene. Functional studies have shown that this variant does not affect nuclear protein binding affinity in the promoter region and does not impact on transcriptional activity (PMID: 21538688, 31395865). This variant has been reported in an individual affected with familial hypercholesterolemia (PMID: 21538688). This variant has been identified in 11/31396 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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