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NM_000277.3(PAH):c.1099del (p.Leu367fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 13, 2019
Accession:
VCV000102524.4
Variation ID:
102524
Description:
1bp deletion
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NM_000277.3(PAH):c.1099del (p.Leu367fs)

Allele ID
108260
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
12q23.2
Genomic location
12: 102843746 (GRCh38) GRCh38 UCSC
12: 103237524 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.103237528del
NC_000012.12:g.102843750del
NM_000277.3:c.1099del MANE Select NP_000268.1:p.Leu367fs frameshift
... more HGVS
Protein change
L367fs
Other names
-
Canonical SPDI
NC_000012.12:102843745:GGGGG:GGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA229343
dbSNP: rs62506951
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 13, 2019 RCV000781680.3
not provided 1 no assertion provided - RCV000088757.1
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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
Likely pathogenic
(Aug 27, 2018)
criteria provided, single submitter
Method: clinical testing
Phenylketonuria
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919922.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: PAH c.1099delC (p.Leu367TrpfsX33) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Dec 13, 2019)
criteria provided, single submitter
Method: clinical testing
Phenylketonuria
Allele origin: germline
Invitae
Accession: SCV001199465.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Leu367Trpfs*33) in the PAH gene. It is expected to result in an absent or disrupted protein … (more)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
Accession: SCV000119341.1
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
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. Wang R Clinica chimica acta; international journal of clinical chemistry 2018 PMID: 29499199
Mutation analysis of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria in Shaanxi, China. Wang L Journal of pediatric endocrinology & metabolism : JPEM 2017 PMID: 29176022
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria. Wettstein S European journal of human genetics : EJHG 2015 PMID: 24939588
[The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province]. Wang FY Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 PMID: 21154324
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Guldberg P American journal of human genetics 1998 PMID: 9634518
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Eisensmith RC Human mutation 1992 PMID: 1301187

Text-mined citations for rs62506951...

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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 Jun 14, 2021