ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.208-14T>G

dbSNP: rs750836360
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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 RCV001181027 SCV001346081 uncertain significance Familial hypercholesterolemia 2023-08-04 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -14 position of intron 1 of the PCSK9 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/249586 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 RCV004006713 SCV004826578 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-08-15 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -14 position of intron 1 of the PCSK9 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/249586 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004006713 SCV005821691 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-12-04 criteria provided, single submitter clinical testing

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