Variant
GUCY2D T280R
NM_000180.4(GUCY2D):c.839C>G (p.Thr280Arg)
- p.Thr280Arg
- p.T280R
- rs868557040
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 31 January 2025
- Expert panel
- ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911Facts last changed 19 October 2026
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page$variant$nameSummary
T280R is a missense variant in GUCY2D: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for GUCY2D-Related Recessive Retinopathy (Leber Congenital Amaurosis 1) (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| GUCY2D-Related Recessive Retinopathy (Leber Congenital Amaurosis 1)ClinVar VCV000808220 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 31 January 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
ACMG/AMP criteria
The ACMG/AMP criteria T280R meets, from its predicted effect in GUCY2D, gnomAD and ClinVar.
| Criterion | Strength | Points | Rests on |
|---|---|---|---|
| PM2Absent or very rare in population databases | Supporting | +1 | Not seen in gnomAD exomes, gnomAD genomes |
| PP5A reputable source reports it as pathogenic | Supporting | Not counted | ClinVar: Likely pathogenic (reviewed by expert panel) |
On these criteria alone: +1 point, uncertain significance.
Assessed automatically, without functional, computational or family evidence. Not a clinical classification.
Population frequency
How often T280R is seen among the people whose exomes and genomes gnomAD 4.1 brings together.
| Dataset | Allele frequency | Allele count | Homozygotes | Commonest in |
|---|---|---|---|---|
| gnomAD exomes | Not seen | 0 of 0 | 0 | |
| gnomAD genomes | Not seen | 0 of 0 | 0 |
Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result.
Where it lies in GUCY2D
T280R lies in exon 3 of the 20 in GUCY2D's MANE Select transcript, NM_000180.4.
Molecular details
| Gene | GUCY2D |
|---|---|
| Transcript | NM_000180.4MANE Select |
| Coding DNA change (HGVS c.) | c.839C>G |
| Protein change (HGVS p.) | p.Thr280Argp.T280R |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr17:8003969 C>G |
| Position (GRCh37) | chr17:7907287 C>G |
| dbSNP ID | rs868557040 (opens in a new tab) |
| ClinVar Variation ID | VCV000808220 (opens in a new tab) |
| ClinVar Allele ID | 797614 |
| ClinGen Allele Registry ID | CA287523615 (opens in a new tab) |
| ClinVar name | NM_000180.4(GUCY2D):c.839C>G (p.Thr280Arg) |
GUCY2D T280R in other databases
Reports that look at this variant (1)
These Genome Test condition reports include T280R among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| GUCY2D-Related Recessive Retinopathy | GUCY2D-Related Recessive Retinopathy (Leber Congenital Amaurosis 1) | Autosomal recessive |
Other variants in GUCY2D
- A76Rfs*238Pathogenic3 stars out of 4
- A946TLikely pathogenic3 stars out of 4
- c.-129_1566delPathogenic3 stars out of 4
- c.3G>APathogenic3 stars out of 4
- c.722-1G>TPathogenic3 stars out of 4
- c.1956+1G>APathogenic3 stars out of 4
- c.2945-1delPathogenic3 stars out of 4
- c.3224+1G>CPathogenic3 stars out of 4
- c.3224+3G>TLikely pathogenic3 stars out of 4
- E103KLikely 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 2026-10-19-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19).
- 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 2026.10.19-9814e911 of 19 October 2026.
Cite this page
Dante Labs. (19 October 2026). GUCY2D T280R (c.839C>G, rs868557040) (Version 2026.10.19-9814e911). Retrieved 21 October 2026, from https://dantelabs.com/genes/gucy2d/variants/t280r
Dante Labs. GUCY2D T280R (c.839C>G, rs868557040) [Internet]. Version 2026.10.19-9814e911. 19 October 2026 [cited 21 October 2026]. Available from: https://dantelabs.com/genes/gucy2d/variants/t280r
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