ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1255dup (p.Tyr419fs)

dbSNP: rs2077408827
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002411922 SCV002675973 pathogenic Cardiovascular phenotype 2022-07-21 criteria provided, single submitter clinical testing The c.1255dupT pathogenic mutation, located in coding exon 9 of the LDLR gene, results from a duplication of T at nucleotide position 1255, causing a translational frameshift with a predicted alternate stop codon (p.Y419Lfs*22). 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.
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences RCV001270434 SCV001450534 likely pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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.