--- title: "PAH L385P (c.1154T>C, rs1846383965) | Dante Labs" description: "ClinVar classifies PAH L385P as Likely pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/pah/variants/l385p" --- 1. [Genes](https://dantelabs.com/genes) 2. [PAH](https://dantelabs.com/genes/pah) 3. PAH L385P Variant # PAH L385P NM_000277.3(PAH):c.1154T>C (p.Leu385Pro) Also known as - p.Leu385Pro - p.L385P - rs1846383965 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 13 October 2023 * Expert panel ClinGen PAH Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary L385P 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 | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------------ | ----------------- | ----------------------------------------- | ------------ | --------------- | | [Phenylketonuria](https://dantelabs.com/conditions/phenylketonuria) [ClinVar VCV002682167 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/2682167/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 13 October 2023 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in PAH L385P lies in exon 11 of the 13 in PAH's MANE Select transcript, NM_000277.3. [PAH variants in exon 11 →](https://dantelabs.com/genes/pah/variants?exon=11) [PAH's gene diagram →](https://dantelabs.com/genes/pah#gene-structure) ## Molecular details | Gene | [PAH](https://dantelabs.com/genes/pah) | | --------------------------- | --------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000277.3 MANE Select | | Coding DNA change (HGVS c.) | c.1154T>C | | Protein change (HGVS p.) | p.Leu385Pro p.L385P | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr12:102843691 A>G | | Position (GRCh37) | chr12:103237469 A>G | | dbSNP ID | [rs1846383965 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1846383965) | | ClinVar Variation ID | [VCV002682167 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/2682167/) | | ClinVar Allele ID | 2843198 | | ClinGen Allele Registry ID | [CA16020951 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA16020951) | | ClinVar name | NM_000277.3(PAH):c.1154T>C (p.Leu385Pro) | ## PAH L385P in other databases - [ClinVar VCV002682167 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/2682167/) - [dbSNP rs1846383965 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1846383965) - [ClinGen Allele Registry CA16020951 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA16020951) - [gnomAD 12-102843691-A-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/12-102843691-A-G?dataset=gnomad_r4) - [Ensembl rs1846383965 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs1846383965) ## Reports that look at this variant (1) These Genome Test condition reports include L385P among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------- | --------------- | ------------------- | | [Phenylketonuria (PKU)](https://dantelabs.com/conditions/phenylketonuria) | Phenylketonuria | Autosomal recessive | ## Other variants in PAH - [A47V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a47v) - [A90Cfs\*12 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a90cfs12) - [A104D Pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a104d) - [A104V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a104v) - [A132V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a132v) - [A156P Pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a156p) - [A165D Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a165d) - [A165T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a165t) - [A202T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a202t) - [A202V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/pah/variants/a202v) [All PAH variants](https://dantelabs.com/genes/pah/variants) ## 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 APA > Dante Labs. (16 October 2026). PAH L385P (c.1154T>C, rs1846383965) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/pah/variants/l385p Vancouver > Dante Labs. PAH L385P (c.1154T>C, rs1846383965) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/pah/variants/l385p Download citation [RIS](https://dantelabs.com/genes/pah/variants/l385p/cite.ris) [BibTeX](https://dantelabs.com/genes/pah/variants/l385p/cite.bib) [CSL-JSON](https://dantelabs.com/genes/pah/variants/l385p/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)