Variant
OTC P158L
NM_000531.6(OTC):c.473C>T (p.Pro158Leu)
- p.Pro158Leu
- p.P158L
- rs2068485732
- ClinVar classification
- Pathogenic/likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 8 November 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
P158L is a missense variant in OTC: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic or likely pathogenic for ornithine carbamoyltransferase deficiency (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| ornithine carbamoyltransferase deficiencyClinVar VCV000870322 (opens in a new tab) | Pathogenic/likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 8 November 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in OTC
P158L lies in exon 5 of the 10 in OTC's MANE Select transcript, NM_000531.6.
Molecular details
| Gene | OTC |
|---|---|
| Transcript | NM_000531.6MANE Select |
| Coding DNA change (HGVS c.) | c.473C>T |
| Protein change (HGVS p.) | p.Pro158Leup.P158L |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chrX:38401361 C>T |
| Position (GRCh37) | chrX:38260614 C>T |
| dbSNP ID | rs2068485732 (opens in a new tab) |
| ClinVar Variation ID | VCV000870322 (opens in a new tab) |
| ClinVar Allele ID | 858487 |
| ClinGen Allele Registry ID | CA412723525 (opens in a new tab) |
| ClinVar name | NM_000531.6(OTC):c.473C>T (p.Pro158Leu) |
OTC P158L in other databases
Reports that look at this variant (1)
These Genome Test condition reports include P158L among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Urea Cycle Disorder | Urea Cycle Disorder |
Other variants in OTC
- A208TPathogenic2 stars out of 4
- A209VPathogenic2 stars out of 4
- A233VLikely pathogenic2 stars out of 4
- c.3G>APathogenic2 stars out of 4
- c.77+1G>APathogenic2 stars out of 4
- c.298+2T>GPathogenic2 stars out of 4
- c.540+1G>APathogenic2 stars out of 4
- c.540+265G>APathogenic2 stars out of 4
- c.663+1G>TPathogenic2 stars out of 4
- c.663+2T>CPathogenic2 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). OTC P158L (c.473C>T, rs2068485732) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/otc/variants/p158l
Dante Labs. OTC P158L (c.473C>T, rs2068485732) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/otc/variants/p158l
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