ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.-23A>C

gnomAD frequency: 0.00002  dbSNP: rs763282380
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237390 SCV000294400 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237390 SCV000607399 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
AiLife Diagnostics, AiLife Diagnostics RCV002223825 SCV002502553 uncertain significance not provided 2021-10-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003581591 SCV004358460 uncertain significance Familial hypercholesterolemia 2023-05-02 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the LDLR gene. An in-vitro functional study has shown that this variant may not affect LDLR promoter activity (PMID: 31395865). This variant has been reported in an individual affected with familial hypercholesterolemia (PMID: 15241806). This variant has been identified in 3/279652 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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