ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)

dbSNP: rs748131256
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
LDLR-LOVD, British Heart Foundation RCV000237332 SCV000294940 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999169 SCV005625855 uncertain significance not provided 2024-11-20 criteria provided, single submitter clinical testing The LDLR c.722T>C (p.Phe241Ser) variant has been reported in the published literature in individuals affected with familial hypercholesterolemia (FH) (PMID: 16389549 (2006), 17094996 (2007), 28349888 (2017)) and myocardial infarction (MI) (PMID: 25487149 (2015)). The frequency of this variant in the general population, 0.000004 (1/251490 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237332 SCV000606210 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.