Variant
ACTC1 R314H
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
- R312H
- p.Arg314His
- p.R314H
- rs121912673
- ClinVar classification
- Likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 23 January 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
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Summary
R314H is a missense variant in ACTC1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for dilated cardiomyopathy 1R (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 1 more condition.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| dilated cardiomyopathy 1RClinVar VCV000018323 (opens in a new tab) | Likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 4 submissions | 23 January 2026 |
| hypertrophic cardiomyopathy 11ClinVar VCV000018323 (opens in a new tab) | Likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 23 January 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in ACTC1
R314H lies in exon 6 of the 7 in ACTC1's MANE Select transcript, NM_005159.5.
Molecular details
| Gene | ACTC1 |
|---|---|
| Transcript | NM_005159.5MANE Select |
| Coding DNA change (HGVS c.) | c.941G>A |
| Protein change (HGVS p.) | p.Arg314Hisp.R314H |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr15:34791163 C>T |
| Position (GRCh37) | chr15:35083364 C>T |
| dbSNP ID | rs121912673 (opens in a new tab) |
| ClinVar Variation ID | VCV000018323 (opens in a new tab) |
| ClinVar Allele ID | 33362 |
| ClinGen Allele Registry ID | CA020002 (opens in a new tab) |
| ClinVar name | NM_005159.5(ACTC1):c.941G>A (p.Arg314His) |
| Other names | R312H |
ACTC1 R314H in other databases
Reports that look at this variant (3)
These Genome Test condition reports include R314H 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 |
Other variants in ACTC1
- E101KPathogenic3 stars out of 4
- I284FLikely pathogenic3 stars out of 4
- D26NPathogenic/likely pathogenic2 stars out of 4
- R212HLikely pathogenic2 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). ACTC1 R314H (c.941G>A, rs121912673) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/actc1/variants/r314h
Dante Labs. ACTC1 R314H (c.941G>A, rs121912673) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/actc1/variants/r314h
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