Variant
DNM2 S619L
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
- p.Ser619Leu
- p.S619L
- rs121909095
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 7 August 2024
- Expert panel
- ClinGen Congenital Myopathies 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
S619L is a missense variant in DNM2: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Centronuclear myopathy (including X-linked myotubular myopathy) (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Centronuclear myopathy (including X-linked myotubular myopathy)ClinVar VCV000007285 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 7 August 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Molecular details
| Gene | DNM2 |
|---|---|
| Transcript | NM_001005361.3MANE Select |
| Coding DNA change (HGVS c.) | c.1856C>T |
| Protein change (HGVS p.) | p.Ser619Leup.S619L |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr19:10823862 C>T |
| Position (GRCh37) | chr19:10934538 C>T |
| dbSNP ID | rs121909095 (opens in a new tab) |
| ClinVar Variation ID | VCV000007285 (opens in a new tab) |
| ClinVar Allele ID | 22324 |
| ClinGen Allele Registry ID | CA172110 (opens in a new tab) |
| ClinVar name | NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) |
DNM2 S619L in other databases
Reports that look at this variant (1)
These Genome Test condition reports include S619L among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Congenital Myopathies | Centronuclear myopathy (including X-linked myotubular myopathy) |
Other variants in DNM2
- A618TPathogenic3 stars out of 4
- D614NLikely pathogenic3 stars out of 4
- E368KPathogenic3 stars out of 4
- E560KLikely pathogenic3 stars out of 4
- E650KLikely pathogenic3 stars out of 4
- R369QPathogenic3 stars out of 4
- R369WPathogenic3 stars out of 4
- R465WPathogenic3 stars out of 4
- R522CLikely pathogenic3 stars out of 4
- R522HPathogenic3 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). DNM2 S619L (c.1856C>T, rs121909095) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/dnm2/variants/s619l
Dante Labs. DNM2 S619L (c.1856C>T, rs121909095) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dnm2/variants/s619l
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