Variant
PAH L41P
NM_000277.3(PAH):c.122T>C (p.Leu41Pro)
- p.Leu41Pro
- p.L41P
- rs62642916
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 6 September 2024
- Expert panel
- ClinGen PAH Variant Curation Expert Panel
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
L41P is a missense variant in PAH: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Phenylketonuria (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| PhenylketonuriaClinVar VCV000102573 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 6 September 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in PAH
L41P lies in exon 2 of the 13 in PAH's MANE Select transcript, NM_000277.3.
Molecular details
| Gene | PAH |
|---|---|
| Transcript | NM_000277.3MANE Select |
| Coding DNA change (HGVS c.) | c.122T>C |
| Protein change (HGVS p.) | p.Leu41Prop.L41P |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr12:102912837 A>G |
| Position (GRCh37) | chr12:103306615 A>G |
| dbSNP ID | rs62642916 (opens in a new tab) |
| ClinVar Variation ID | VCV000102573 (opens in a new tab) |
| ClinVar Allele ID | 108309 |
| ClinGen Allele Registry ID | CA229408 (opens in a new tab) |
| ClinVar name | NM_000277.3(PAH):c.122T>C (p.Leu41Pro) |
PAH L41P in other databases
Reports that look at this variant (1)
These Genome Test condition reports include L41P among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Phenylketonuria (PKU) | Phenylketonuria | Autosomal recessive |
Other variants in PAH
- A47VLikely pathogenic3 stars out of 4
- A90Cfs*12Pathogenic3 stars out of 4
- A104DPathogenic3 stars out of 4
- A104VLikely pathogenic3 stars out of 4
- A132VLikely pathogenic3 stars out of 4
- A156PPathogenic3 stars out of 4
- A165DLikely pathogenic3 stars out of 4
- A165TLikely pathogenic3 stars out of 4
- A202TLikely pathogenic3 stars out of 4
- A202VLikely 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 2026-10-16-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). PAH L41P (c.122T>C, rs62642916) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/pah/variants/l41p
Dante Labs. PAH L41P (c.122T>C, rs62642916) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pah/variants/l41p
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