ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.754G>A (p.Val252Met)

gnomAD frequency: 0.00003  dbSNP: rs149139428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179830 SCV001344617 uncertain significance Familial hypercholesterolemia 2023-02-22 criteria provided, single submitter clinical testing This missense variant replaces valine with methionine at codon 252 of the PCSK9 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 been identified in 7/280296 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.
Fulgent Genetics, Fulgent Genetics RCV002483978 SCV002789559 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2021-08-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002483978 SCV004836015 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2024-01-11 criteria provided, single submitter clinical testing This missense variant replaces valine with methionine at codon 252 of the PCSK9 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 7/280296 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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