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NM_000277.3(PAH):c.800A>T (p.Gln267Leu)

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Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
2 (Most recent: Feb 25, 2019)
Last evaluated:
Aug 10, 2018
Accession:
VCV000225135.1
Variation ID:
225135
Description:
single nucleotide variant
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NM_000277.3(PAH):c.800A>T (p.Gln267Leu)

Allele ID
227028
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q23.2
Genomic location
12: 102852857 (GRCh38) GRCh38 UCSC
12: 103246635 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.103246635T>A
NC_000012.12:g.102852857T>A
NM_000277.3:c.800A>T MANE Select NP_000268.1:p.Gln267Leu missense
... more HGVS
Protein change
Q267L
Other names
NM_000277.2(PAH):c.800A>T
Canonical SPDI
NC_000012.12:102852856:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA354145
dbSNP: rs778154939
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 reviewed by expert panel Aug 10, 2018 RCV000210763.1
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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
1113 1142

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(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: SCV000852111.3
Submitted: (Feb 25, 2019)
Evidence details
Publications
PubMed (3)
Other databases
https://erepo.clinicalgenome.org…
Comment:
PAH-specific ACMG/AMP criteria applied: PM2: Absent from 1000G, ESP. Extremely low frequency in ExAC and gnomAD ( 0.00001, 0.000004063); PP3: Predicted deleterious in SIFT, Polyphen2, … (more)
Likely pathogenic
(Oct 01, 2013)
no assertion criteria provided
Method: clinical testing
Phenylketonuria
Allele origin: paternal
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital
Accession: SCV000266852.1
Submitted: (Jun 28, 2015)
Comment:
This variant was reported to be a novel likely pathogenic mutation for the first time by us.
Evidence details
Publications
PubMed (1)

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
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. Li N Scientific reports 2015 PMID: 26503515
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. Zhang JJ Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 PMID: 24078561
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. Okano Y Journal of human genetics 2011 PMID: 21307867
http://www.ncbi.nlm.nih.gov/pubmed/24078561 - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/0f298658-69d4-402a-a0d1-47973a683451 - - - -

Text-mined citations for rs778154939...

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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 Aug 07, 2021