ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.941-39C>T

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000238407 SCV004022452 benign Hypercholesterolemia, familial, 1 2023-04-28 reviewed by expert panel curation The NM_000527.5(LDLR):c.941-39C>T variant is classified as Benign for Familial Hypercholesterolemia by applying evidence codes BA1 and BP4 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: BA1: FAF=0.005249 (0.5249%) in European (Non-Finnish) exomes (gnomAD v2.1.1). So BA1 is met. BP4: The variant is not predicted to affect the splicing process by SpliceAI. So, BP4 is met.
LDLR-LOVD, British Heart Foundation RCV000238407 SCV000295084 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV001080577 SCV000556779 benign Familial hypercholesterolemia 2023-11-28 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000238407 SCV000588532 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000238407 SCV000607536 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV000615723 SCV000730508 likely benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Iberoamerican FH Network RCV000238407 SCV000748138 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000858129 SCV001151654 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing LDLR: BS2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238407 SCV000606279 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV000858129 SCV002034463 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615723 SCV002035069 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001080577 SCV002086396 likely benign Familial hypercholesterolemia 2019-11-06 no assertion criteria provided clinical testing

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