ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.2065C>T (p.Gln689Ter)

gnomAD frequency: 0.00001  dbSNP: rs769487037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190700 SCV001358273 uncertain significance Familial hypercholesterolemia 2023-08-28 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 12 of the PCSK9 gene, creating a premature translation stop signal in the last coding exon. This mutant transcript is predicted to escape nonsense-mediated decay and be expressed as a truncated protein product lacking the last 4 amino acids of the protein. To our knowledge, functional studies have not been reported for this variant nor has this variant has been reported in individuals affected with PCSK9-related disorders in the literature. This variant has been identified in 2/276416 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.
All of Us Research Program, National Institutes of Health RCV004807441 SCV005429420 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2024-07-10 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 12 of the PCSK9 gene, creating a premature translation stop signal in the last coding exon. This mutant transcript is predicted to escape nonsense-mediated decay and be expressed as a truncated protein product lacking the last 4 amino acids of the protein. To our knowledge, functional studies have not been reported for this variant nor has this variant has been reported in individuals affected with PCSK9-related disorders in the literature. This variant has been identified in 2/276416 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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