ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1705+1G>T

dbSNP: rs875989926
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237724 SCV000295593 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237724 SCV000503392 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237724 SCV000599384 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000237724 SCV001366193 pathogenic Hypercholesterolemia, familial, 1 2020-01-30 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PS3,PM2.
GeneDx RCV004701339 SCV005201890 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 7635482, 33955087, 33740630)
Mayo Clinic Laboratories, Mayo Clinic RCV004701339 SCV005413318 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing PM2, PS3_moderate, PS4_moderate, PVS1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237724 SCV000606490 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.