NM_000360.4(TH):c.748del (p.Glu250fs) AND Autosomal recessive DOPA responsive dystonia

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 28, 2022
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:: RCV002306717.2

Allele description [Variation Report for NM_000360.4(TH):c.748del (p.Glu250fs)]

NM_000360.4(TH):c.748del (p.Glu250fs)

Gene:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000360.4(TH):c.748del (p.Glu250fs)

HGVS:

NC_000011.10:g.2166983del
NG_008128.1:g.9826del
NM_000360.4:c.748delMANE SELECT
NM_199292.3:c.841del
NM_199293.3:c.829del
NP_000351.2:p.Glu250fs
NP_954986.2:p.Glu281fs
NP_954987.2:p.Glu277fs
NC_000011.9:g.2188213del

Protein change:

E250fs

Molecular consequence:

NM_000360.4:c.748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199292.3:c.841del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_199293.3:c.829del - 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
SCV002602747	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Jan 28, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602747

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Jan 28, 2022)

unknown

clinical testing

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 Myriad Genetics, Inc., SCV002602747.2

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

Description

NM_199292.2(TH):c.841delG(E281Sfs*30) is expected to be pathogenic in the context of tyrosine hydroxylase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TH, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#	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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