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NM_000277.3(PAH):c.464G>C (p.Arg155Pro)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
4 (Most recent: Aug 5, 2019)
Last evaluated:
Aug 10, 2018
Accession:
VCV000102687.2
Variation ID:
102687
Description:
single nucleotide variant
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NM_000277.3(PAH):c.464G>C (p.Arg155Pro)

Allele ID
108423
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q23.2
Genomic location
12: 102866641 (GRCh38) GRCh38 UCSC
12: 103260419 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P00439:p.Arg155Pro
NC_000012.11:g.103260419C>G
NC_000012.12:g.102866641C>G
... more HGVS
Protein change
R155P
Other names
NM_000277.2(PAH):c.464G>C
Canonical SPDI
NC_000012.12:102866640:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA229561
UniProtKB: P00439#VAR_009242
dbSNP: rs199475663
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 reviewed by expert panel Aug 10, 2018 RCV000675156.1
Uncertain significance 2 criteria provided, single submitter Sep 29, 2015 RCV000088935.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PAH - - GRCh38
GRCh37
1115 1145

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 10, 2018)
reviewed by expert panel
Method: curation
Phenylketonuria
(Autosomal recessive inheritance)
Allele origin: germline
ClinGen PAH Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000852116.3
Submitted: (Feb 25, 2019)
Evidence details
Publications
PubMed (1)
Other databases
https://erepo.clinicalgenome.org…
Comment:
PAH-specific ACMG/AMP criteria applied: PM2: absent from ExAC, gnomAD, 1000G, ESP. PAGE MAF=0.00066; PP3: Deleterious effect predicted in SIFT, Polyphen-2, MutationTaster. REVEL=0.967; PP4_Moderate: Detected in … (more)
Uncertain significance
(Sep 29, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230889.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
http://exac.broadinstitute.org/g…
http://www.ncbi.nlm.nih.gov/vari…
http://www.pahdb.mcgill.ca/
Likely pathogenic
(Jun 20, 2017)
no assertion criteria provided
Method: clinical testing
Phenylketonuria
Allele origin: unknown
Counsyl
Accession: SCV000800771.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (3)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
Accession: SCV000119535.1
Submitted: (Mar 30, 2012)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. Jeannesson-Thivisol E Orphanet journal of rare diseases 2015 PMID: 26666653
Plasma cholesterol in adults with phenylketonuria. Williams RA Pathology 2015 PMID: 25551302
Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. Hennermann JB Human mutation 2000 PMID: 10679941
http://exac.broadinstitute.org/gene/ENSG00000171759 - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PAH - - - -
http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/?chr=12&from=103260419&to=103260419 - - - -
http://www.pahdb.mcgill.ca/ - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/a532eae1-862f-4d90-b69e-5e590a9f7512 - - - -

Text-mined citations for rs199475663...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021