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NM_000360.4(TH):c.1141C>A (p.Gln381Lys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 6, 2016
Accession:
VCV000012324.2
Variation ID:
12324
Description:
single nucleotide variant
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NM_000360.4(TH):c.1141C>A (p.Gln381Lys)

Allele ID
27363
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2165727 (GRCh38) GRCh38 UCSC
11: 2186957 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2165727G>T
NC_000011.9:g.2186957G>T
NM_000360.4:c.1141C>A MANE Select NP_000351.2:p.Gln381Lys missense
... more HGVS
Protein change
Q412K, Q381K, Q408K
Other names
-
Canonical SPDI
NC_000011.10:2165726:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA278129
UniProtKB: P07101#VAR_014031
OMIM: 191290.0001
dbSNP: rs121917762
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 criteria provided, single submitter Feb 6, 2016 RCV000013117.23
Likely pathogenic 1 criteria provided, single submitter Feb 6, 2016 RCV000229249.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TH - - GRCh38
GRCh37
496 540

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 06, 2016)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive DOPA responsive dystonia
Allele origin: germline
Invitae
Accession: SCV001574404.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glutamine with lysine at codon 412 of the TH protein (p.Gln412Lys). The glutamine residue is highly conserved and there is a … (more)
Likely pathogenic
(Feb 06, 2016)
criteria provided, single submitter
Method: clinical testing
Dystonia
Allele origin: germline
Invitae
Accession: SCV000291894.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change replaces glutamine with lysine at codon 412 of the TH protein (p.Gln412Lys). The glutamine residue is highly conserved and there is a … (more)
Pathogenic
(Jun 01, 1999)
no assertion criteria provided
Method: literature only
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000033364.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

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
A new knock-in mouse model of l-DOPA-responsive dystonia. Rose SJ Brain : a journal of neurology 2015 PMID: 26220941
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. Fossbakk A Human mutation 2014 PMID: 24753243
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). Wevers RA Journal of inherited metabolic disease 1999 PMID: 10407773
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Lüdecke B Human molecular genetics 1996 PMID: 8817341
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Knappskog PM Human molecular genetics 1995 PMID: 8528210
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Lüdecke B Human genetics 1995 PMID: 7814018

Text-mined citations for rs121917762...

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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