ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.2023del (p.Val675fs)

gnomAD frequency: 0.00001  dbSNP: rs772102827
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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 RCV001190137 SCV001357556 uncertain significance Familial hypercholesterolemia 2019-03-11 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant deletes 1 nucleotide in the last exon 12 of the PCSK9 gene, creating a frameshift. This results in the addition of 111 new amino acids before introducing a translation stop codon. 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 been identified in 1/249542 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.
Fulgent Genetics, Fulgent Genetics RCV002491569 SCV002775170 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2021-07-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002491569 SCV004846318 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-05-31 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 12 of the PCSK9 gene, causing a frameshift in the last exon and addition of 130 new amino acids before introducing a stop codon. This results in a protein product that is 111 amino acids longer than the normal protein product. To our knowledge, functional studies have not been reported for this variant. To our knowledge, this variant has not been reported in individuals affected with PCSK9-related disorders in the literature. This variant has been identified in 1/249542 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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