ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.799+5del

dbSNP: rs2100299786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050056 SCV002116059 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2021-09-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PCSK9-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the PCSK9 gene. It does not directly change the encoded amino acid sequence of the PCSK9 protein. It affects a nucleotide within the consensus splice site of the intron.
Color Diagnostics, LLC DBA Color Health RCV003581810 SCV004358044 uncertain significance Familial hypercholesterolemia 2022-01-04 criteria provided, single submitter clinical testing This variant deletes a nucleotide in intron 5 of the PCSK9 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. 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 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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