ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2069_2085del (p.His690fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004633923 SCV005136015 pathogenic Cardiovascular phenotype 2024-05-29 criteria provided, single submitter clinical testing The c.2069_2085del17 pathogenic mutation, located in coding exon 14 of the LDLR gene, results from a deletion of 17 nucleotides at nucleotide positions 2069 to 2085, causing a translational frameshift with a predicted alternate stop codon (p.H690Lfs*21). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.