ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.266C>T (p.Ser89Leu)

gnomAD frequency: 0.00003  dbSNP: rs771978846
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000417312 SCV000503502 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1, family member = 1 / Software predictions: Benign
Fulgent Genetics, Fulgent Genetics RCV000417312 SCV002799526 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2021-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022192 SCV003629673 uncertain significance Cardiovascular phenotype 2024-02-09 criteria provided, single submitter clinical testing The p.S89L variant (also known as c.266C>T), located in coding exon 2 of the PCSK9 gene, results from a C to T substitution at nucleotide position 266. The serine at codon 89 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003581656 SCV004358029 uncertain significance Familial hypercholesterolemia 2022-11-21 criteria provided, single submitter clinical testing This missense variant replaces serine with leucine at codon 89 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 been reported in an individual affected with familial hypercholesterolemia (communication with an external laboratory; SCV000503502.1). This variant has been identified in 2/282556 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 RCV000417312 SCV004822364 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces serine with leucine at codon 89 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 been reported in an individual affected with familial hypercholesterolemia (communication with an external laboratory; SCV000503502.1). This variant has been identified in 2/282556 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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