Variant
TPM1 E192K
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
- p.E192K:GAG>AAG
- p.Glu192Lys
- p.E192K
- rs199476315
- ClinVar classification
- Pathogenic/likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 7 January 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
E192K is a missense variant in TPM1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic or likely pathogenic for Hypertrophic Cardiomyopathy (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 1 more condition.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Hypertrophic CardiomyopathyClinVar VCV000031882 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 3 submissions | 7 January 2026 |
| hypertrophic cardiomyopathy 3ClinVar VCV000031882 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 6 submissions | 24 November 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Molecular details
| Gene | TPM1 |
|---|---|
| Transcript | NM_001018005.2MANE Select |
| Coding DNA change (HGVS c.) | c.574G>A |
| Protein change (HGVS p.) | p.Glu192Lysp.E192K |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr15:63061723 G>A |
| Position (GRCh37) | chr15:63353922 G>A |
| dbSNP ID | rs199476315 (opens in a new tab) |
| ClinVar Variation ID | VCV000031882 (opens in a new tab) |
| ClinVar Allele ID | 40542 |
| ClinGen Allele Registry ID | CA018196 (opens in a new tab) |
| ClinVar name | NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) |
| Other names | p.E192K:GAG>AAG |
TPM1 E192K in other databases
Reports that look at this variant (1)
These Genome Test condition reports include E192K among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hypertrophic Cardiomyopathy | Hypertrophic Cardiomyopathy | Autosomal dominant |
Other variants in TPM1
- A63VPathogenic/likely pathogenic2 stars out of 4
- D159NLikely pathogenic2 stars out of 4
- D175NPathogenic2 stars out of 4
- R160HPathogenic/likely pathogenic2 stars out of 4
- S215LPathogenic/likely pathogenic2 stars out of 4
- T201MPathogenic/likely pathogenic2 stars out of 4
- V95APathogenic2 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). TPM1 E192K (c.574G>A, rs199476315) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/tpm1/variants/e192k
Dante Labs. TPM1 E192K (c.574G>A, rs199476315) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tpm1/variants/e192k
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