ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.940+4A>C

gnomAD frequency: 0.00001  dbSNP: rs768247312
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189122 SCV001356333 uncertain significance Familial hypercholesterolemia 2023-04-26 criteria provided, single submitter clinical testing This variant is located in the intron 6 splice donor region of the LDLR gene. Computational splicing tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. 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 2/250868 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. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004010339 SCV004827422 uncertain significance Hypercholesterolemia, familial, 1 2023-05-16 criteria provided, single submitter clinical testing This variant is located in the intron 6 splice donor region of the LDLR gene. Computational splicing tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. 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 2/250868 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. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004639491 SCV005136011 uncertain significance Cardiovascular phenotype 2024-05-17 criteria provided, single submitter clinical testing The c.940+4A>C intronic variant results from an A to C substitution 4 nucleotides after coding exon 6 in the LDLR gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.