ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-120C>A

dbSNP: rs875989886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191402 SCV001359222 uncertain significance Familial hypercholesterolemia 2018-11-11 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant causes a single nucleotide change in the promoter region of the LDLR gene. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. 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.

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