Variant
CAPN3 D419E
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
- p.Asp419Glu
- p.D419E
- rs139836397
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 9 January 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-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
D419E is a missense variant in CAPN3: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely 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 dystrophyClinVar VCV000282873 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 9 January 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in CAPN3
D419E lies in exon 10 of the 24 in CAPN3's MANE Select transcript, NM_000070.3.
Molecular details
| Gene | CAPN3 |
|---|---|
| Transcript | NM_000070.3MANE Select |
| Coding DNA change (HGVS c.) | c.1257T>G |
| Protein change (HGVS p.) | p.Asp419Glup.D419E |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr15:42399555 T>G |
| Position (GRCh37) | chr15:42691753 T>G |
| dbSNP ID | rs139836397 (opens in a new tab) |
| ClinVar Variation ID | VCV000282873 (opens in a new tab) |
| ClinVar Allele ID | 267110 |
| ClinGen Allele Registry ID | CA7511304 (opens in a new tab) |
| ClinVar name | NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) |
CAPN3 D419E in other databases
Reports that look at this variant (1)
These Genome Test condition reports include D419E among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Limb-Girdle Muscular Dystrophy | Limb-girdle Muscular Dystrophy |
Other variants in CAPN3
- A702VPathogenic3 stars out of 4
- A798EPathogenic3 stars out of 4
- c.499-1G>APathogenic3 stars out of 4
- c.1115+5G>CPathogenic3 stars out of 4
- c.1194-2A>GPathogenic3 stars out of 4
- c.1194-2delPathogenic3 stars out of 4
- c.1194-9A>GPathogenic3 stars out of 4
- c.1524G>APathogenic3 stars out of 4
- c.1746-20C>GPathogenic3 stars out of 4
- c.1782G>ALikely pathogenic3 stars out of 4
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
Dante Labs. (16 October 2026). CAPN3 D419E (c.1257T>G, rs139836397) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/capn3/variants/d419e
Dante Labs. CAPN3 D419E (c.1257T>G, rs139836397) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/capn3/variants/d419e
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