NM_001082971.2(DDC):c.526C>G (p.Gln176Glu) AND Deficiency of aromatic-L-amino-acid decarboxylase

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 27, 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:: RCV003048877.3

Allele description [Variation Report for NM_001082971.2(DDC):c.526C>G (p.Gln176Glu)]

NM_001082971.2(DDC):c.526C>G (p.Gln176Glu)

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.526C>G (p.Gln176Glu)

HGVS:

NC_000007.14:g.50529252G>C
NG_008742.1:g.41205C>G
NG_008742.2:g.41153C>G
NM_000790.4:c.526C>G
NM_001082971.2:c.526C>GMANE SELECT
NM_001242886.2:c.412C>G
NM_001242887.2:c.526C>G
NM_001242888.2:c.292C>G
NM_001242889.2:c.435+8608C>G
NM_001242890.2:c.526C>G
NP_000781.2:p.Gln176Glu
NP_001076440.2:p.Gln176Glu
NP_001229815.2:p.Gln138Glu
NP_001229816.2:p.Gln176Glu
NP_001229817.2:p.Gln98Glu
NP_001229819.2:p.Gln176Glu
NC_000007.13:g.50596950G>C

Protein change:

Q138E

Molecular consequence:

NM_001242889.2:c.435+8608C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000790.4:c.526C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001082971.2:c.526C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001242886.2:c.412C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001242887.2:c.526C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001242888.2:c.292C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001242890.2:c.526C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003354086	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 27, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003354086

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 27, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003354086.2

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

Description

Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 176 of the DDC protein (p.Gln176Glu).

#	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: Sep 29, 2024

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