ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1194C>T (p.Ile398=)

gnomAD frequency: 0.00138  dbSNP: rs13306498
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000210233 SCV002817131 likely benign Hypercholesterolemia, familial, 1 2022-08-29 reviewed by expert panel curation The NM_000527.5(LDLR): c.1194C>T (p.Ile398=) variant is classified as Likely Benign for Familial Hypercholesterolemia by applying evidence code BS1, BP4 and BP7 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines (https://doi.org/10.1016/j.gim.2021.09.012). The supporting evidence is as follows: BS1 - FAF = 0.00448 (0.448%) in East Asian exomes (gnomAD v2.1.1). BP4 - No REVEL, splicing evaluation required. Functional data on splicing not available. Variant is not located within the limits of canonical splicing sites Variant is exonic and at least 50bp upstream from canonical donor site but does not creates AG There is no AG Nearby Variant is not predicted to alter splicing. BP7 - Variant is synonymous and meets BP4
Cardiovascular Biomarker Research Laboratory, Mayo Clinic RCV000210233 SCV000266323 likely benign Hypercholesterolemia, familial, 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%
LDLR-LOVD, British Heart Foundation RCV000210233 SCV000295287 benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV000858408 SCV000556771 benign Familial hypercholesterolemia 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000210233 SCV000689759 benign Hypercholesterolemia, familial, 1 2017-07-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000210233 SCV001286368 benign Hypercholesterolemia, familial, 1 2018-08-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Pars Genome Lab RCV000210233 SCV001736823 likely benign Hypercholesterolemia, familial, 1 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001723783 SCV001949524 benign not provided 2020-01-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17347910, 32719484)
CeGaT Center for Human Genetics Tuebingen RCV001723783 SCV002063727 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing LDLR: BP4, BP7
Ambry Genetics RCV002336587 SCV002644824 likely benign Cardiovascular phenotype 2016-05-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000210233 SCV000583803 likely pathogenic Hypercholesterolemia, familial, 1 2017-03-30 flagged submission clinical testing
Natera, Inc. RCV001272182 SCV001453897 benign Autosomal dominant familial hypercholesterolemia 2020-05-30 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699012 SCV001920104 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723783 SCV001969926 likely benign not provided no assertion criteria provided clinical testing

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.