NM_001082971.2(DDC):c.201+5G>C AND Deficiency of aromatic-L-amino-acid decarboxylase

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 24, 2024
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:: RCV001896867.5

Allele description [Variation Report for NM_001082971.2(DDC):c.201+5G>C]

NM_001082971.2(DDC):c.201+5G>C

Gene:

DDC:dopa decarboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p12.1

Genomic location:

Preferred name:

NM_001082971.2(DDC):c.201+5G>C

HGVS:

NC_000007.14:g.50543880C>G
NG_008742.1:g.26577G>C
NM_000790.4:c.201+5G>C
NM_001082971.2:c.201+5G>CMANE SELECT
NM_001242886.2:c.201+5G>C
NM_001242887.2:c.201+5G>C
NM_001242888.2:c.201+5G>C
NM_001242889.2:c.201+5G>C
NM_001242890.2:c.201+5G>C
NC_000007.13:g.50611578C>G

Links:

dbSNP: rs2044715580

NCBI 1000 Genomes Browser:

rs2044715580

Molecular consequence:

NM_000790.4:c.201+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001082971.2:c.201+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001242886.2:c.201+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001242887.2:c.201+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001242888.2:c.201+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001242889.2:c.201+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001242890.2:c.201+5G>C - 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
SCV002175493	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 24, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 30952622, 31849064, 32369189, 17576681, 9536098, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002175493

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 24, 2024)

germline

clinical testing

PubMed (6)
[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 amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.

Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Review. Erratum in: Mol Genet Metab. 2021 Sep-Oct;134(1-2):216. doi: 10.1016/j.ymgme.2021.06.010.

PubMed [citation]

PMID:: 30952622

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.

Brennenstuhl H, Kohlmüller D, Gramer G, Garbade SF, Syrbe S, Feyh P, Kölker S, Okun JG, Hoffmann GF, Opladen T.

J Inherit Metab Dis. 2020 May;43(3):602-610. doi: 10.1002/jimd.12208. Epub 2020 Jan 6.

PubMed [citation]

PMID:: 31849064

See all PubMed Citations (6)

Details of each submission

From Invitae, SCV002175493.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change falls in intron 2 of the DDC gene. It does not directly change the encoded amino acid sequence of the DDC protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 30952622, 31849064, 32369189). ClinVar contains an entry for this variant (Variation ID: 1401179). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 20, 2024

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