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NM_001082971.2(DDC):c.231C>A (p.Phe77Leu) AND Deficiency of aromatic-L-amino-acid decarboxylase

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 31, 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:
RCV001967473.3

Allele description [Variation Report for NM_001082971.2(DDC):c.231C>A (p.Phe77Leu)]

NM_001082971.2(DDC):c.231C>A (p.Phe77Leu)

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.231C>A (p.Phe77Leu)
HGVS:
  • NC_000007.14:g.50539999G>T
  • NG_008742.1:g.30458C>A
  • NM_000790.4:c.231C>A
  • NM_001082971.2:c.231C>AMANE SELECT
  • NM_001242886.2:c.202-2020C>A
  • NM_001242887.2:c.231C>A
  • NM_001242888.2:c.201+3886C>A
  • NM_001242889.2:c.231C>A
  • NM_001242890.2:c.231C>A
  • NP_000781.2:p.Phe77Leu
  • NP_001076440.2:p.Phe77Leu
  • NP_001229816.2:p.Phe77Leu
  • NP_001229818.2:p.Phe77Leu
  • NP_001229819.2:p.Phe77Leu
  • NC_000007.13:g.50607697G>T
  • NR_033845.1:n.347G>T
Protein change:
F77L
Links:
dbSNP: rs751519679
NCBI 1000 Genomes Browser:
rs751519679
Molecular consequence:
  • NM_001242886.2:c.202-2020C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001242888.2:c.201+3886C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000790.4:c.231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001082971.2:c.231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242887.2:c.231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242889.2:c.231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242890.2:c.231C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033845.1:n.347G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002207234Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 31, 2021) 		germlineclinical testing

PubMed (2)
[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

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

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, SCV002207234.2

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

Description

This sequence change replaces phenylalanine with leucine at codon 77 of the DDC protein (p.Phe77Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with aromatic L-amino acid decarboxylase deficiency (PMID: 31849064). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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

Last Updated: Sep 29, 2024