--- title: "CAPN3 E716D (c.2148G>T, rs770894443) | Dante Labs" description: "ClinVar classifies CAPN3 E716D 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/capn3/variants/e716d" --- 1. [Genes](https://dantelabs.com/genes) 2. [CAPN3](https://dantelabs.com/genes/capn3) 3. CAPN3 E716D Variant # CAPN3 E716D NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) Also known as - p.Glu716Asp - p.E716D - rs770894443 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 25 June 2025 * Expert panel ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary E716D is a missense variant in CAPN3: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for autosomal recessive limb-girdle muscular dystrophy (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ----------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | -------------- | | autosomal recessive limb-girdle muscular dystrophy[ClinVar VCV000285340 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/285340/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 25 June 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in CAPN3 E716D lies in exon 20 of the 24 in CAPN3's MANE Select transcript, NM_000070.3. [CAPN3 variants in exon 20 →](https://dantelabs.com/genes/capn3/variants?exon=20) [CAPN3's gene diagram →](https://dantelabs.com/genes/capn3#gene-structure) ## Molecular details | Gene | [CAPN3](https://dantelabs.com/genes/capn3) | | --------------------------- | --------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000070.3 MANE Select | | Coding DNA change (HGVS c.) | c.2148G>T | | Protein change (HGVS p.) | p.Glu716Asp p.E716D | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr15:42410460 G>T | | Position (GRCh37) | chr15:42702658 G>T | | dbSNP ID | [rs770894443 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs770894443) | | ClinVar Variation ID | [VCV000285340 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/285340/) | | ClinVar Allele ID | 269577 | | ClinGen Allele Registry ID | [CA10605085 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA10605085) | | ClinVar name | NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) | ## CAPN3 E716D in other databases - [ClinVar VCV000285340 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/285340/) - [dbSNP rs770894443 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs770894443) - [ClinGen Allele Registry CA10605085 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA10605085) - [gnomAD 15-42410460-G-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/15-42410460-G-T?dataset=gnomad_r4) - [Ensembl rs770894443 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs770894443) ## Reports that look at this variant (1) These Genome Test condition reports include E716D among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------------- | ------------------------------ | ----------- | | [Limb-Girdle Muscular Dystrophy](https://dantelabs.com/conditions/limb-girdle-muscular-dystrophy) | Limb-girdle Muscular Dystrophy | | ## Other variants in CAPN3 - [A702V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/a702v) - [A798E Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/a798e) - [c.499-1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-499-1g-a) - [c.1115+5G>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-1115plus5g-c) - [c.1194-2A>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-1194-2a-g) - [c.1194-2del Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-1194-2del) - [c.1194-9A>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-1194-9a-g) - [c.1524G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-1524g-a) - [c.1746-20C>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-1746-20c-g) - [c.1782G>A Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/capn3/variants/c-1782g-a) [All CAPN3 variants](https://dantelabs.com/genes/capn3/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). CAPN3 E716D (c.2148G>T, rs770894443) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/capn3/variants/e716d Vancouver > Dante Labs. CAPN3 E716D (c.2148G>T, rs770894443) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/capn3/variants/e716d Download citation [RIS](https://dantelabs.com/genes/capn3/variants/e716d/cite.ris) [BibTeX](https://dantelabs.com/genes/capn3/variants/e716d/cite.bib) [CSL-JSON](https://dantelabs.com/genes/capn3/variants/e716d/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)