ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.379del (p.Val127fs)

dbSNP: rs878854028
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000229645 SCV000285025 pathogenic Hypercholesterolemia, familial, 1 2016-01-10 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 4 of the LDLR mRNA (c.379delG), causing a frameshift at codon 127. This creates a premature translational stop signal (p.Val127Serfs*79) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001382356 SCV001581091 pathogenic Familial hypercholesterolemia 2016-01-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in LDLR are known to be pathogenic (PMID: 20809525). This sequence change deletes 1 nucleotide from exon 4 of the LDLR mRNA (c.379delG), causing a frameshift at codon 127. This creates a premature translational stop signal (p.Val127Serfs*79) and is expected to result in an absent or disrupted protein product.

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.