ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.199T>C (p.Cys67Arg)

dbSNP: rs376619733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177649 SCV001341898 uncertain significance Familial hypercholesterolemia 2023-04-18 criteria provided, single submitter clinical testing This missense variant replaces cysteine with arginine at codon 67 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 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.
Fulgent Genetics, Fulgent Genetics RCV002480597 SCV002784735 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2021-10-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002480597 SCV004844077 uncertain significance Hypercholesterolemia, autosomal dominant, 3 2023-05-04 criteria provided, single submitter clinical testing This missense variant replaces cysteine with arginine at codon 67 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 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.
Ambry Genetics RCV004986876 SCV005475713 uncertain significance Cardiovascular phenotype 2024-10-21 criteria provided, single submitter clinical testing The c.199T>C (p.C67R) alteration is located in exon 1 (coding exon 1) of the PCSK9 gene. This alteration results from a T to C substitution at nucleotide position 199, causing the cysteine (C) at amino acid position 67 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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