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NM_000161.2(GCH1):c.747G>C (p.Arg249Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 17, 2017)
Last evaluated:
Mar 8, 2017
Accession:
VCV000009286.1
Variation ID:
9286
Description:
single nucleotide variant
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NM_000161.2(GCH1):c.747G>C (p.Arg249Ser)

Allele ID
24325
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q22.2
Genomic location
14: 54844023 (GRCh38) GRCh38 UCSC
14: 55310741 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.9:g.54844023C>G
NC_000014.8:g.55310741C>G
NM_000161.2:c.747G>C NP_000152.1:p.Arg249Ser missense
... more HGVS
Protein change
R249S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
UniProtKB: P30793#VAR_016907
OMIM: 600225.0016
dbSNP: rs104894442
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 8, 2017 RCV000518763.1
Pathogenic 1 no assertion criteria provided Sep 1, 1999 RCV000009869.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GCH1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
126 140

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613389.1
Submitted: (Aug 17, 2017)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 01, 1999)
no assertion criteria provided
Method: literature only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000030090.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. Hwu WL Human genetics 1999 PMID: 10987649

Record last updated Jun 17, 2019