ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.658-6G>T

dbSNP: rs745633457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002524934 SCV003282214 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-05-15 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 440717). This variant has not been reported in the literature in individuals affected with PCSK9-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 4 of the PCSK9 gene. It does not directly change the encoded amino acid sequence of the PCSK9 protein.
Color Diagnostics, LLC DBA Color Health RCV003581680 SCV004358039 uncertain significance Familial hypercholesterolemia 2023-11-22 criteria provided, single submitter clinical testing This variant causes a G to T nucleotide substitution at the -6 position of intron 4 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 PCSK9-related disorders 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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508845 SCV000606694 pathogenic Hypocholesterolemia no assertion criteria provided research

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