ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.208-8G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004008057 SCV004815088 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-02-24 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the -8 position of intron 1 of the PCSK9 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Although this prediction has not been confirmed in published RNA studies, this variant is predicted to create a novel acceptor site that would result in an in-frame insertion. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PCSK9-related disorders in the literature. This variant has not been identified 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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