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NM_000277.3(PAH):c.770G>T (p.Gly257Val)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Apr 24, 2019)
Last evaluated:
Aug 2, 2018
Accession:
VCV000102830.2
Variation ID:
102830
Description:
single nucleotide variant
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NM_000277.3(PAH):c.770G>T (p.Gly257Val)

Allele ID
108566
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q23.2
Genomic location
12: 102852887 (GRCh38) GRCh38 UCSC
12: 103246665 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.103246665C>A
NC_000012.12:g.102852887C>A
NM_000277.3:c.770G>T MANE Select NP_000268.1:p.Gly257Val missense
... more HGVS
Protein change
G257V
Other names
-
Canonical SPDI
NC_000012.12:102852886:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA229753
dbSNP: rs62642908
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 Aug 2, 2018 RCV000668413.2
not provided 1 no assertion provided - RCV000089087.1
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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
1103 1132

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 25, 2017)
criteria provided, single submitter
Method: clinical testing
Phenylketonuria
Allele origin: unknown
Counsyl
Accession: SCV000793007.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (9)
Pathogenic
(Aug 02, 2018)
criteria provided, single submitter
Method: clinical testing
Phenylketonuria
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919916.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: PAH c.770G>T (p.Gly257Val) results in a non-conservative amino acid change located in the Aromatic amino acid hydroxylase, C-terminal domain (IPR019774) of the encoded … (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: SCV000119693.1
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
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. Liu N BMC medical genetics 2017 PMID: 28982351
Prenatal diagnosis of Chinese families with phenylketonuria. Liu N Genetics and molecular research : GMR 2015 PMID: 26600521
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. Li N Scientific reports 2015 PMID: 26503515
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria. Tao J Pediatric research 2015 PMID: 26322415
Mutational spectrum of phenylketonuria in Jiangsu province. Chen YF European journal of pediatrics 2015 PMID: 25894915
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population. Liang Y Journal of human genetics 2014 PMID: 24401910
Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Dobrowolski SF Molecular genetics and metabolism 2007 PMID: 17502162
Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex. Møller LB Molecular genetics and metabolism 2005 PMID: 16176881
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. Chien YH Human mutation 2004 PMID: 14722928
The structural basis of phenylketonuria. Erlandsen H Molecular genetics and metabolism 1999 PMID: 10527663

Text-mined citations for rs62642908...

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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