--- title: "DES E245D (c.735G>C, rs267607486) | Dante Labs" description: "ClinVar classifies DES E245D as Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/des/variants/e245d" --- 1. [Genes](https://dantelabs.com/genes) 2. [DES](https://dantelabs.com/genes/des) 3. DES E245D Variant # DES E245D NM_001927.4(DES):c.735G>C (p.Glu245Asp) Also known as - p.Glu245Asp - p.E245D - rs267607486 * ClinVar classification Pathogenic/likely pathogenic * Review status 2 stars out of 4 criteria provided, multiple submitters, no conflicts * Last evaluated 26 August 2024 Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.17-8666dff2 Facts last changed 17 October 2026 ## Summary E245D is a missense variant in DES: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic or likely pathogenic for dilated cardiomyopathy 1I (criteria provided, multiple submitters, no conflicts). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | --------------------------------------------------------------------------------------------------------------------------- | ---------------------------- | --------------------------------------------------------------------- | ------------- | -------------- | | dilated cardiomyopathy 1I[ClinVar VCV000066420 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/66420/) | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | 3 submissions | 26 August 2024 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in DES E245D lies in exon 3 of the 9 in DES's MANE Select transcript, NM_001927.4. [DES variants in exon 3 →](https://dantelabs.com/genes/des/variants?exon=3) [DES's gene diagram →](https://dantelabs.com/genes/des#gene-structure) ## Molecular details | Gene | [DES](https://dantelabs.com/genes/des) | | --------------------------- | -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_001927.4 MANE Select | | Coding DNA change (HGVS c.) | c.735G>C | | Protein change (HGVS p.) | p.Glu245Asp p.E245D | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) [exonic_splice_region_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0002084) | | Predicted impact | Moderate | | Position (GRCh38) | chr2:219420346 G>C | | Position (GRCh37) | chr2:220285068 G>C | | dbSNP ID | [rs267607486 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs267607486) | | ClinVar Variation ID | [VCV000066420 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/66420/) | | ClinVar Allele ID | 77317 | | ClinGen Allele Registry ID | [CA217085 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA217085) | | ClinVar name | NM_001927.4(DES):c.735G>C (p.Glu245Asp) | ## DES E245D in other databases - [ClinVar VCV000066420 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/66420/) - [dbSNP rs267607486 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs267607486) - [ClinGen Allele Registry CA217085 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA217085) - [gnomAD 2-219420346-G-C (opens in a new tab)](https://gnomad.broadinstitute.org/variant/2-219420346-G-C?dataset=gnomad_r4) - [Ensembl rs267607486 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs267607486) ## Reports that look at this variant (1) These Genome Test condition reports include E245D among the variants they look at. | Report | Conditions | Inheritance | | --------------------------------------------------------------------------------- | ---------------------- | ----------- | | [Dilated Cardiomyopathy](https://dantelabs.com/conditions/dilated-cardiomyopathy) | Dilated Cardiomyopathy | | ## Other variants in DES - [c.1A>G Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/c-1a-g) - [c.735+1G>A Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/c-735plus1g-a) - [c.735+1G>C Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/c-735plus1g-c) - [c.735+3A>G Pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/c-735plus3a-g) - [c.1288+1G>A Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/c-1288plus1g-a) - [E108X Pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/e108x) - [G456R Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/g456r) - [H384R Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/h384r) - [K449T Pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/k449t) - [L345P Pathogenic 2 stars out of 4](https://dantelabs.com/genes/des/variants/l345p) [All DES variants](https://dantelabs.com/genes/des/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 2026-10-17-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-17). - 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 2026.10.17-8666dff2 of 17 October 2026. ## Cite this page APA > Dante Labs. (17 October 2026). DES E245D (c.735G>C, rs267607486) (Version 2026.10.17-8666dff2). Retrieved 17 October 2026, from https\://dantelabs.com/genes/des/variants/e245d Vancouver > Dante Labs. DES E245D (c.735G>C, rs267607486) \[Internet]. Version 2026.10.17-8666dff2. 17 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/des/variants/e245d Download citation [RIS](https://dantelabs.com/genes/des/variants/e245d/cite.ris) [BibTeX](https://dantelabs.com/genes/des/variants/e245d/cite.bib) [CSL-JSON](https://dantelabs.com/genes/des/variants/e245d/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)