NM_001242889.2(DDC):c.435+8518_435+8519del AND Deficiency of aromatic-L-amino-acid decarboxylase

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 30, 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:: RCV002872415.10

Allele description [Variation Report for NM_001242889.2(DDC):c.435+8518_435+8519del]

NM_001242889.2(DDC):c.435+8518_435+8519del

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p12.1

Genomic location:

Preferred name:

NM_001242889.2(DDC):c.435+8518_435+8519del

HGVS:

NC_000007.14:g.50529342_50529343del
NG_008742.1:g.41115_41116del
NG_008742.2:g.41063_41064del
NM_001242889.2:c.435+8518_435+8519del
NC_000007.13:g.50597039_50597040del
NC_000007.13:g.50597040_50597041del

Molecular consequence:

NM_001242889.2:c.435+8518_435+8519del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Deficiency of aromatic-L-amino-acid decarboxylase
Synonyms:: DDC deficiency; Aromatic amino acid decarboxylase deficiency; Dopa decarboxylase deficiency
Identifiers:: MONDO: MONDO:0012084; MedGen: C1291564; Orphanet: 35708; OMIM: 608643

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003239039	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 30, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15079002, 24788355, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003239039

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 30, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC.

Neurology. 2004 Apr 13;62(7):1058-65. Review.

PubMed [citation]

PMID:: 15079002

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C.

JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1.

PubMed [citation]

PMID:: 24788355
PMCID:: PMC4270864

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003239039.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with DDC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly146Lysfs*4) in the DDC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DDC are known to be pathogenic (PMID: 15079002, 24788355).

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

Last Updated: Nov 10, 2024

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