Variant
MTM1 R69C
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
- p.Arg69Cys
- p.R69C
- rs132630304
- 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
Summary
R69C is a missense variant in MTM1: 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 VCV000011055 (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.
Where it lies in MTM1
R69C lies in exon 4 of the 15 in MTM1's MANE Select transcript, NM_000252.3.
Molecular details
| Gene | MTM1 |
|---|---|
| Transcript | NM_000252.3MANE Select |
| Coding DNA change (HGVS c.) | c.205C>T |
| Protein change (HGVS p.) | p.Arg69Cysp.R69C |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chrX:150598660 C>T |
| Position (GRCh37) | chrX:149767124 C>T |
| dbSNP ID | rs132630304 (opens in a new tab) |
| ClinVar Variation ID | VCV000011055 (opens in a new tab) |
| ClinVar Allele ID | 26094 |
| ClinGen Allele Registry ID | CA255665 (opens in a new tab) |
| ClinVar name | NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) |
MTM1 R69C in other databases
Reports that look at this variant (1)
These Genome Test condition reports include R69C among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Congenital Myopathies | Centronuclear myopathy (including X-linked myotubular myopathy) |
Other variants in MTM1
- c.690G>CLikely pathogenic3 stars out of 4
- c.1353G>ALikely pathogenic3 stars out of 4
- c.1644+1G>APathogenic3 stars out of 4
- E48Lfs*24Pathogenic3 stars out of 4
- E404KPathogenic3 stars out of 4
- H598Mfs*23Likely pathogenic3 stars out of 4
- P205LPathogenic3 stars out of 4
- R224XPathogenic3 stars out of 4
- W230CLikely pathogenic3 stars out of 4
- W230RLikely 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). MTM1 R69C (c.205C>T, rs132630304) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/mtm1/variants/r69c
Dante Labs. MTM1 R69C (c.205C>T, rs132630304) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mtm1/variants/r69c
Read your whole genome
From $449Free shipping · Results in 6–8 weeks