ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1264G>C (p.Asp422His)

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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 RCV004013287 SCV004833038 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-05-04 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with histidine at codon 422 of the PCSK9 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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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