NM_000360.4(TH):c.787G>C (p.Gly263Arg) AND Autosomal recessive DOPA responsive dystonia

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Nov 30, 2023
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000666139.5

Allele description [Variation Report for NM_000360.4(TH):c.787G>C (p.Gly263Arg)]

NM_000360.4(TH):c.787G>C (p.Gly263Arg)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000360.4(TH):c.787G>C (p.Gly263Arg)

HGVS:

NC_000011.10:g.2166941C>G
NG_008128.1:g.9865G>C
NM_000360.4:c.787G>CMANE SELECT
NM_199292.3:c.880G>C
NM_199293.3:c.868G>C
NP_000351.2:p.Gly263Arg
NP_954986.2:p.Gly294Arg
NP_954987.2:p.Gly290Arg
NC_000011.9:g.2188171C>G
NM_199292.2:c.880G>C

Protein change:

G263R

Links:

dbSNP: rs755536257

NCBI 1000 Genomes Browser:

rs755536257

Molecular consequence:

NM_000360.4:c.787G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_199292.3:c.880G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_199293.3:c.868G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive DOPA responsive dystonia
Synonyms:: Segawa syndrome, autosomal recessive; DYT-TH; TH-deficient dopa-responsive dystonia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011551; MedGen: C2673535; Orphanet: 101150; OMIM: 605407

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790383	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Mar 17, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20823027, 20056467 Citation Link,
SCV004171239	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004203843	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 28, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790383

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Mar 17, 2017)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV004171239

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 30, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004203843

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 28, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

Yeung WL, Wong VC, Chan KY, Hui J, Fung CW, Yau E, Ko CH, Lam CW, Mak CM, Siu S, Low L.

J Child Neurol. 2011 Feb;26(2):179-87. doi: 10.1177/0883073810377014. Epub 2010 Sep 7. Erratum in: J Child Neurol. 2012 Jun;27(6):829-31.

PubMed [citation]

PMID:: 20823027

Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

Mak CM, Lam CW, Siu TS, Chan KY, Siu WK, Yeung WL, Hui J, Wong VC, Low LC, Ko CH, Fung CW, Chen SP, Yuen YP, Lee HC, Yau E, Chan B, Tong SF, Tam S, Chan YW.

Mol Genet Metab. 2010 Apr;99(4):431-3. doi: 10.1016/j.ymgme.2009.12.011. Epub 2009 Dec 21.

PubMed [citation]

PMID:: 20056467

See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000790383.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV004171239.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004203843.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

ClinVar

Relating variation to medicine