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NM_001082971.2(DDC):c.254C>A (p.Ser85Ter) AND Deficiency of aromatic-L-amino-acid decarboxylase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 2021
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:
RCV002903483.2

Allele description

NM_001082971.2(DDC):c.254C>A (p.Ser85Ter)

Genes:
DDC-AS1:DDC antisense RNA 1 [Gene - HGNC]
DDC:dopa decarboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p12.1
Genomic location:
Preferred name:
NM_001082971.2(DDC):c.254C>A (p.Ser85Ter)
HGVS:
  • NC_000007.14:g.50539976G>T
  • NG_008742.1:g.30481C>A
  • NG_008742.2:g.30429C>A
  • NM_000790.4:c.254C>A
  • NM_001082971.2:c.254C>AMANE SELECT
  • NM_001242886.2:c.202-1997C>A
  • NM_001242887.2:c.254C>A
  • NM_001242888.2:c.201+3909C>A
  • NM_001242889.2:c.254C>A
  • NM_001242890.2:c.254C>A
  • NP_000781.2:p.Ser85Ter
  • NP_001076440.2:p.Ser85Ter
  • NP_001229816.2:p.Ser85Ter
  • NP_001229818.2:p.Ser85Ter
  • NP_001229819.2:p.Ser85Ter
  • NC_000007.13:g.50607674G>T
  • NR_033845.1:n.324G>T
Protein change:
S85*
Molecular consequence:
  • NM_001242886.2:c.202-1997C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001242888.2:c.201+3909C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_033845.1:n.324G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000790.4:c.254C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001082971.2:c.254C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001242887.2:c.254C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001242889.2:c.254C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001242890.2:c.254C>A - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003251712Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 16, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV003251712.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. 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.Ser85*) 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024