ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.747C>G (p.Ser249Arg)

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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 RCV004017064 SCV004835970 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-05-16 criteria provided, single submitter clinical testing This missense variant replaces serine with arginine at codon 249 of the PCSK9 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. 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 has not been identified in the general population by the Genome Aggregation Database (gnomAD). 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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