Variant
TNNT2 R183Q
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
- p.R173Q:CGG>CAG
- p.Arg183Gln
- p.R183Q
- rs397516471
- ClinVar classification
- Pathogenic/likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 2 February 2026
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/tnnt2/variants/r183q.json"
page <- fromJSON(url)
page$variant$nameSummary
R183Q is a missense variant in TNNT2: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic or likely pathogenic for dilated cardiomyopathy 1D (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 2 more conditions.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| dilated cardiomyopathy 1DClinVar VCV000043649 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 2 February 2026 |
| Familial Restrictive Cardiomyopathy 3 (TNNT2)ClinVar VCV000043649 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 2 February 2026 |
| hypertrophic cardiomyopathy 2ClinVar VCV000043649 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 2 February 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in TNNT2
R183Q lies in exon 12 of the 17 in TNNT2's MANE Select transcript, NM_001276345.2.
Molecular details
| Gene | TNNT2 |
|---|---|
| Transcript | NM_001276345.2MANE Select |
| Coding DNA change (HGVS c.) | c.548G>A |
| Protein change (HGVS p.) | p.Arg183Glnp.R183Q |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr1:201363348 C>T |
| Position (GRCh37) | chr1:201332476 C>T |
| dbSNP ID | rs397516471 (opens in a new tab) |
| ClinVar Variation ID | VCV000043649 (opens in a new tab) |
| ClinVar Allele ID | 52818 |
| ClinGen Allele Registry ID | CA004727 (opens in a new tab) |
| ClinVar name | NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) |
| Other names | p.R173Q:CGG>CAG |
TNNT2 R183Q in other databases
Reports that look at this variant (4)
These Genome Test condition reports include R183Q among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Dilated Cardiomyopathy | Dilated Cardiomyopathy | |
| Hypertrophic Cardiomyopathy | Hypertrophic Cardiomyopathy | Autosomal dominant |
| Left Ventricular Noncompaction | Left Ventricular Noncompaction | |
| Restrictive Cardiomyopathy | Familial Restrictive Cardiomyopathy 3 (TNNT2) | Autosomal dominant |
Other variants in TNNT2
- c.851+1G>ALikely pathogenic3 stars out of 4
- R104HLikely pathogenic3 stars out of 4
- W297XLikely pathogenic3 stars out of 4
- A182SLikely pathogenic2 stars out of 4
- c.851+1G>TPathogenic/likely pathogenic2 stars out of 4
- c.891G>APathogenic/likely pathogenic2 stars out of 4
- D96APathogenic/likely pathogenic2 stars out of 4
- E173delPathogenic2 stars out of 4
- E173KPathogenic/likely pathogenic2 stars out of 4
- F120IPathogenic2 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). TNNT2 R183Q (c.548G>A, rs397516471) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/tnnt2/variants/r183q
Dante Labs. TNNT2 R183Q (c.548G>A, rs397516471) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tnnt2/variants/r183q
Read your whole genome
From $449Free shipping · Results in 6–8 weeks