U.S. flag

An official website of the United States government

NM_001082971.2(DDC):c.424G>A (p.Gly142Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 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:
RCV004699286.1

Allele description [Variation Report for NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)]

NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)

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.424G>A (p.Gly142Arg)
HGVS:
  • NC_000007.14:g.50537871C>T
  • NG_008742.1:g.32586G>A
  • NM_000790.4:c.424G>A
  • NM_001082971.2:c.424G>AMANE SELECT
  • NM_001242886.2:c.310G>A
  • NM_001242887.2:c.424G>A
  • NM_001242888.2:c.201+6014G>A
  • NM_001242889.2:c.424G>A
  • NM_001242890.2:c.424G>A
  • NP_000781.2:p.Gly142Arg
  • NP_001076440.2:p.Gly142Arg
  • NP_001229815.2:p.Gly104Arg
  • NP_001229816.2:p.Gly142Arg
  • NP_001229818.2:p.Gly142Arg
  • NP_001229819.2:p.Gly142Arg
  • NC_000007.13:g.50605569C>T
  • NM_000790.3:c.424G>A
Protein change:
G104R
Links:
dbSNP: rs757220196
NCBI 1000 Genomes Browser:
rs757220196
Molecular consequence:
  • NM_001242888.2:c.201+6014G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000790.4:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001082971.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242886.2:c.310G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242887.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242889.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242890.2:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005203042Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 22, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.

Hyland K, Reott M.

Pediatr Neurol. 2020 May;106:38-42. doi: 10.1016/j.pediatrneurol.2019.11.022. Epub 2019 Dec 26.

PubMed [citation]
PMID:
32111562

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, et al.

Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Erratum in: Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647.

PubMed [citation]
PMID:
37348148

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005203042.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: DDC c.424G>A (p.Gly142Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251454 control chromosomes. c.424G>A has been reported in the literature in the compound heterozygous state in individuals affected with Deficiency Of Aromatic-L-Amino-Acid Decarboxylase (e.g. Himmelreich_2023, Hyland_2020). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 37348148, 32111562). ClinVar contains an entry for this variant (Variation ID: 1001454). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Sep 29, 2024