Variant
DES S13F
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
- p.Ser13Phe
- p.S13F
- rs62636495
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 29 October 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/des/variants/s13f.json"
page <- fromJSON(url)
page$variant$nameSummary
S13F is a missense variant in DES: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for myofibrillar myopathy 1 (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| myofibrillar myopathy 1ClinVar VCV000044260 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 29 October 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in DES
S13F lies in exon 1 of the 9 in DES's MANE Select transcript, NM_001927.4.
Molecular details
| Gene | DES |
|---|---|
| Transcript | NM_001927.4MANE Select |
| Coding DNA change (HGVS c.) | c.38C>T |
| Protein change (HGVS p.) | p.Ser13Phep.S13F |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr2:219418500 C>T |
| Position (GRCh37) | chr2:220283222 C>T |
| dbSNP ID | rs62636495 (opens in a new tab) |
| ClinVar Variation ID | VCV000044260 (opens in a new tab) |
| ClinVar Allele ID | 53427 |
| ClinGen Allele Registry ID | CA261520 (opens in a new tab) |
| ClinVar name | NM_001927.4(DES):c.38C>T (p.Ser13Phe) |
DES S13F in other databases
Reports that look at this variant (2)
These Genome Test condition reports include S13F among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Dilated Cardiomyopathy | Dilated Cardiomyopathy | |
| Myofibrillar Myopathies | Myofibrillar myopathy |
Other variants in DES
- c.1A>GLikely pathogenic2 stars out of 4
- c.735+1G>APathogenic/likely pathogenic2 stars out of 4
- c.735+1G>CPathogenic/likely pathogenic2 stars out of 4
- c.735+3A>GPathogenic2 stars out of 4
- c.1288+1G>ALikely pathogenic2 stars out of 4
- E108XPathogenic2 stars out of 4
- E245DPathogenic/likely pathogenic2 stars out of 4
- G456RLikely pathogenic2 stars out of 4
- H384RLikely pathogenic2 stars out of 4
- K449TPathogenic2 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). DES S13F (c.38C>T, rs62636495) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/des/variants/s13f
Dante Labs. DES S13F (c.38C>T, rs62636495) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/des/variants/s13f
Read your whole genome
From $449Free shipping · Results in 6–8 weeks