NM_000360.4(TH):c.717del (p.Lys240fs) AND Autosomal recessive DOPA responsive dystonia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 29, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000409078.2

Allele description [Variation Report for NM_000360.4(TH):c.717del (p.Lys240fs)]

NM_000360.4(TH):c.717del (p.Lys240fs)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000360.4(TH):c.717del (p.Lys240fs)

HGVS:

NC_000011.10:g.2167011del
NG_008128.1:g.9795del
NM_000360.4:c.717delMANE SELECT
NM_199292.3:c.810del
NM_199293.3:c.798del
NP_000351.2:p.Lys240fs
NP_954986.2:p.Lys271fs
NP_954987.2:p.Lys267fs
NC_000011.9:g.2188241del
NM_000360.3:c.717delG

Protein change:

K240fs

Links:

dbSNP: rs1057516712

NCBI 1000 Genomes Browser:

rs1057516712

Molecular consequence:

NM_000360.4:c.717del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199292.3:c.810del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199293.3:c.798del - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486095	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Mar 29, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000486095

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Mar 29, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486095.2

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

#	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: Jan 15, 2023

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