ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11100203)_(11107534_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806566 SCV000946570 pathogenic Familial hypercholesterolemia 2018-08-06 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 2-6 of the LDLR gene. It preserves the integrity of the reading frame. A similar deletion of exons 2-6 has been reported in individuals affected with familial hypercholesterolemia (PMID: 1319734, 2837085, 22883975). Variants that disrupt the p.Asp90 amino acid residue in LDLR have been observed in affected individuals (PMID: 25962062, 21376320, 27765764, 15823276, 16343504, 12837857). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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.