ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)

dbSNP: rs912448894
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001805125 SCV002052017 uncertain significance Familial hypercholesterolemia 2023-11-22 criteria provided, single submitter clinical testing This missense variant replaces proline with leucine at codon 144 of the LDLR protein. This variant is also known as p.Pro123Leu in the mature protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LDLR-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The 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.
Fulgent Genetics, Fulgent Genetics RCV000508823 SCV002792807 uncertain significance Hypercholesterolemia, familial, 1 2021-07-12 criteria provided, single submitter clinical testing
GeneDx RCV003328591 SCV004035576 uncertain significance not provided 2023-09-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as p.(P123L); This variant is associated with the following publications: (PMID: 30583242, 34906454, 32719484)
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508823 SCV000606118 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.