--- title: "LDLR E240X (c.718G>T, rs768563000) | Dante Labs" description: "ClinVar classifies LDLR E240X as Pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/ldlr/variants/e240x" --- 1. [Genes](https://dantelabs.com/genes) 2. [LDLR](https://dantelabs.com/genes/ldlr) 3. LDLR E240X Variant # LDLR E240X NM_000527.5(LDLR):c.718G>T (p.Glu240Ter) Also known as - p.Glu240Ter - p.E240\* - rs768563000 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 7 June 2021 * Expert panel ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary E240X is a nonsense variant in LDLR: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for hypercholesterolemia, familial, 1 (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------ | -------------- | ----------------------------------------- | ------------ | -------------- | | hypercholesterolemia, familial, 1[ClinVar VCV000251422 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/251422/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 7 June 2021 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in LDLR E240X lies in exon 5 of the 18 in LDLR's MANE Select transcript, NM_000527.5. [LDLR variants in exon 5 →](https://dantelabs.com/genes/ldlr/variants?exon=5) [LDLR's gene diagram →](https://dantelabs.com/genes/ldlr#gene-structure) ## Molecular details | Gene | [LDLR](https://dantelabs.com/genes/ldlr) | | --------------------------- | --------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000527.5 MANE Select | | Coding DNA change (HGVS c.) | c.718G>T | | Protein change (HGVS p.) | p.Glu240Ter p.E240\* | | Predicted consequence | Nonsense (stop gained) [stop_gained (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001587) | | Predicted impact | High | | Position (GRCh38) | chr19:11106588 G>T | | Position (GRCh37) | chr19:11217264 G>T | | dbSNP ID | [rs768563000 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs768563000) | | ClinVar Variation ID | [VCV000251422 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/251422/) | | ClinVar Allele ID | 245758 | | ClinGen Allele Registry ID | [CA10585103 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA10585103) | | ClinVar name | NM_000527.5(LDLR):c.718G>T (p.Glu240Ter) | ## LDLR E240X in other databases - [ClinVar VCV000251422 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/251422/) - [dbSNP rs768563000 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs768563000) - [ClinGen Allele Registry CA10585103 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA10585103) - [gnomAD 19-11106588-G-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/19-11106588-G-T?dataset=gnomad_r4) - [Ensembl rs768563000 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs768563000) ## Reports that look at this variant (2) These Genome Test condition reports include E240X among the variants they look at. | Report | Conditions | Inheritance | | ----------------------------------------------------------------------------------------------- | ----------------------------- | ----------- | | [Familial Hypercholesterolemia](https://dantelabs.com/conditions/familial-hypercholesterolemia) | familial hypercholesterolemia | | | [Hyperlipidemia](https://dantelabs.com/conditions/hyperlipidemia) | Hyperlipidemia | | ## Other variants in LDLR - [A399D Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a399d) - [A399T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a399t) - [A431P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a431p) - [A431T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a431t) - [A540S Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a540s) - [A540T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a540t) - [A612Rfs\*50 Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a612rfs50) - [A697P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/a697p) - [c.1A>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/c-1a-c) - [c.1A>G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ldlr/variants/c-1a-g) [All LDLR variants](https://dantelabs.com/genes/ldlr/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). LDLR E240X (c.718G>T, rs768563000) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/ldlr/variants/e240x Vancouver > Dante Labs. LDLR E240X (c.718G>T, rs768563000) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/ldlr/variants/e240x Download citation [RIS](https://dantelabs.com/genes/ldlr/variants/e240x/cite.ris) [BibTeX](https://dantelabs.com/genes/ldlr/variants/e240x/cite.bib) [CSL-JSON](https://dantelabs.com/genes/ldlr/variants/e240x/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)