Variant
SDHD P81L
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
- p.Pro81Leu
- p.P81L
- rs80338844
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 26 January 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
P81L is a missense variant in SDHD: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Carney-Stratakis syndrome (criteria provided, multiple submitters, no conflicts). ClinVar also lists it under 2 more conditions.
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Carney-Stratakis syndromeClinVar VCV000006896 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 3 submissions | 26 January 2026 |
| Hereditary pheochromocytoma-paragangliomaClinVar VCV000006896 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 3 submissions | 11 June 2024 |
| pheochromocytoma/paraganglioma syndrome 1ClinVar VCV000006896 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 7 submissions | 29 March 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in SDHD
P81L lies in exon 3 of the 4 in SDHD's MANE Select transcript, NM_003002.4.
Molecular details
| Gene | SDHD |
|---|---|
| Transcript | NM_003002.4MANE Select |
| Coding DNA change (HGVS c.) | c.242C>T |
| Protein change (HGVS p.) | p.Pro81Leup.P81L |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr11:112088939 C>T |
| Position (GRCh37) | chr11:111959663 C>T |
| dbSNP ID | rs80338844 (opens in a new tab) |
| ClinVar Variation ID | VCV000006896 (opens in a new tab) |
| ClinVar Allele ID | 21935 |
| ClinGen Allele Registry ID | CA016688 (opens in a new tab) |
| ClinVar name | NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) |
SDHD P81L in other databases
Reports that look at this variant (1)
These Genome Test condition reports include P81L among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hereditary Pheochromocytoma and Paraganglioma | Hereditary pheochromocytoma-paraganglioma | Autosomal dominant |
| Carney-Stratakis syndrome | Autosomal dominant |
Other variants in SDHD
- A33Ifs*35Pathogenic2 stars out of 4
- c.314+3A>CLikely pathogenic2 stars out of 4
- C11XPathogenic2 stars out of 4
- D113Mfs*21Pathogenic2 stars out of 4
- G106VPathogenic2 stars out of 4
- L20Cfs*66Pathogenic2 stars out of 4
- L107RPathogenic/likely pathogenic2 stars out of 4
- R38XPathogenic2 stars out of 4
- S32XPathogenic2 stars out of 4
- W43XPathogenic2 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). SDHD P81L (c.242C>T, rs80338844) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/sdhd/variants/p81l
Dante Labs. SDHD P81L (c.242C>T, rs80338844) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sdhd/variants/p81l
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