ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter)

dbSNP: rs879254789
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
LDLR-LOVD, British Heart Foundation RCV000238054 SCV000295215 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Ambry Genetics RCV004020960 SCV005035872 pathogenic Cardiovascular phenotype 2023-10-31 criteria provided, single submitter clinical testing The p.Q366* pathogenic mutation (also known as c.1096C>T), located in coding exon 8 of the LDLR gene, results from a C to T substitution at nucleotide position 1096. This changes the amino acid from a glutamine to a stop codon within coding exon 8. This mutation (referred to as Q345stop) has been detected in a familial hypercholesterolemia cohort (Widhalm K et al. J Inherit Metab Dis, 2007 Apr;30:239-47). 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.