Total 91 pathogenic variants reported for Deficiency of aromatic-L-amino-acid decarboxylase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser) SNV
Germline		 Chr7:50539926 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts
 CA127442 rs_137853207

5 SubmittersRCV000019387
NM_001082971.2(DDC):c.749C>T (p.Ser250Phe) SNV
Germline		 Chr7:50504025 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts
 CA127444 rs_137853208

3 SubmittersRCV000019388
NM_001082971.2(DDC):c.925T>C (p.Phe309Leu) SNV
Germline		 Chr7:50495369 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase No Assertion Criteria Provided
 CA127446 rs_137853209

1 SubmittersRCV000019389
NM_001082971.2(DDC):c.439A>C (p.Ser147Arg) SNV
Germline		 Chr7:50529339 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase No Assertion Criteria Provided
 CA127448 rs_137853210

1 SubmittersRCV000019390
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) SNV
Germline		 Chr7:50539958 Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127450 rs_137853211

4 SubmittersRCV000019391RCV003238725
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) SNV
Germline		 Chr7:50499201 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA127452 rs_137853212

3 SubmittersRCV000019392RCV004700253
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) SNV
Germline		 Chr7:50476625 Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase
See cases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA203847 rs_201951824

10 SubmittersRCV000184027RCV002252027RCV003114340
NM_001082971.2(DDC):c.6C>T (p.Asn2=) SNV
Germline		 Chr7:50544080 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 CA4262524 rs_749246611

2 SubmittersRCV000394908
NM_001082971.2(DDC):c.478C>T (p.Arg160Trp) SNV
Germline		 Chr7:50529300 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 CA10626215 rs_886062374

2 SubmittersRCV000279143
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) SNV
Germline		 Chr7:50499171 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 CA10629249 rs_886062372

3 SubmittersRCV000334201
NM_001082971.2(DDC):c.366C>T (p.Leu122=) SNV
Germline		 Chr7:50537929 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 CA4262392 rs_377528325

2 SubmittersRCV000287219
NM_001082971.2(DDC):c.1073G>A (p.Arg358His) SNV
Germline		 Chr7:50470140 Pathogenic/Likely pathogenic Condition: not provided
Deficiency of aromatic-L-amino-acid decarboxylase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4262068 rs_771317809

3 SubmittersRCV000445005RCV000578157
NM_001082971.2(DDC):c.1352G>T (p.Cys451Phe) SNV
Unknown		 Chr7:50463322 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 CA367527699 rs_1554411234

1 SubmittersRCV000578194
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) SNV
Germline		 Chr7:50463317 Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts
 rs_142110773

2 SubmittersRCV000677176
NM_001082971.2(DDC):c.1042-2A>G SNV
Germline		 Chr7:50470173 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_1276093487

1 SubmittersRCV000705586
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile) SNV
Germline		 Chr7:50495371 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_375716771

3 SubmittersRCV000688326RCV002298740
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) SNV
Germline		 Chr7:50529332 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_971183744

2 SubmittersRCV000787964
NM_001082971.2(DDC):c.715A>T (p.Met239Leu) SNV
Germline		 Chr7:50504059 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_11575376

2 SubmittersRCV000974672
NM_001082971.2(DDC):c.816A>C (p.Ala272=) SNV
Germline		 Chr7:50499208 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_767990522

2 SubmittersRCV001163812
NM_001082971.2(DDC):c.571-3C>G SNV
Germline		 Chr7:50528283 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase No Assertion Criteria Provided
 rs_779659084

1 SubmittersRCV000985167
NM_001082971.2(DDC):c.440G>T (p.Ser147Ile) SNV
Unknown		 Chr7:50529338 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_1585237892

1 SubmittersRCV000987869
NM_001082971.2(DDC):c.714+4A>T SNV
Germline		 Chr7:50528133 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_200362242

7 SubmittersRCV001071116RCV003156315
NM_001082971.2(DDC):c.1044T>C (p.His348=) SNV
Germline		 Chr7:50470169 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
DDC-related disorder		 Criteria Provided
Conflicting Classifications
 rs_527805112

3 SubmittersRCV001163808RCV003973115
NM_001082971.2(DDC):c.822C>T (p.Tyr274=) SNV
Germline		 Chr7:50499202 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
Condition: not provided
DDC-related disorder		 Criteria Provided
Conflicting Classifications
 rs_746729797

4 SubmittersRCV001163811RCV003425969RCV003953551
NM_001082971.2(DDC):c.564C>T (p.Ser188=) SNV
Germline		 Chr7:50529214 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_371336321

2 SubmittersRCV001158897
NM_001082971.2(DDC):c.135T>C (p.Ala45=) SNV
Germline		 Chr7:50543951 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
DDC-related disorder		 Criteria Provided
Conflicting Classifications
 rs_11575291

3 SubmittersRCV001163609RCV003945883
NM_001082971.2(DDC):c.7G>A (p.Ala3Thr) SNV
Germline		 Chr7:50544079 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_766408460

4 SubmittersRCV001163926RCV004777977RCV002558579
NM_001082971.2(DDC):c.1041+12A>T SNV
Germline		 Chr7:50476612 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_2042651349

2 SubmittersRCV001163809
NM_001082971.2(DDC):c.436-6A>G SNV
Germline		 Chr7:50529348 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_770694855

2 SubmittersRCV001160236
NM_001082971.2(DDC):c.316-5G>C SNV
Germline		 Chr7:50537984 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_2044474558

2 SubmittersRCV001160237
NM_001082971.2(DDC):c.316-6C>T SNV
Germline		 Chr7:50537985 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_377474761

2 SubmittersRCV001160238
NM_001082971.2(DDC):c.315+11G>A SNV
Germline		 Chr7:50539904 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_753275419

2 SubmittersRCV001160239
NM_001082971.2(DDC):c.571-2A>G SNV
Unknown		 Chr7:50528282 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_2044098060

1 SubmittersRCV001199140
NM_001082971.2(DDC):c.876G>A (p.Glu292=) SNV
Germline		 Chr7:50499148 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_1237793828

1 SubmittersRCV001212125
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg) SNV
Germline		 Chr7:50539944 Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts
 rs_1285477390

3 SubmittersRCV001250057
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu) SNV
Germline		 Chr7:50539970 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_746244631

2 SubmittersRCV001250058
NM_001082971.2(DDC):c.1228T>G (p.Cys410Gly) SNV
Germline		 Chr7:50467228 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase No Assertion Criteria Provided
 rs_2042419194

1 SubmittersRCV001255133
NM_001082971.2(DDC):c.116G>C (p.Arg39Pro) SNV
Germline		 Chr7:50543970 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_376647978

1 SubmittersRCV001316040
NM_001082971.2(DDC):c.945-1G>C SNV
Unknown		 Chr7:50479864 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_2042728719

1 SubmittersRCV001329408
NM_001082971.2(DDC):c.1041+1G>C SNV
Germline		 Chr7:50476623 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_1209062363

1 SubmittersRCV003518758
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter) SNV
Germline		 Chr7:50544067 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_138828136

2 SubmittersRCV001336994RCV004035817
NM_001082971.2(DDC):c.367G>A (p.Gly123Arg) SNV
Germline		 Chr7:50537928 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_768596169

1 SubmittersRCV001339870
NM_001082971.2(DDC):c.206C>T (p.Thr69Met) SNV
Germline		 Chr7:50540024 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_777956037

4 SubmittersRCV001366716
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp) SNV
Germline		 Chr7:50467222 Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase
RASopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_542063660

4 SubmittersRCV001380420RCV004545219RCV004699354
NM_001082971.2(DDC):c.73G>A (p.Glu25Lys) SNV
Germline		 Chr7:50544013 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of aromatic-L-amino-acid decarboxylase
not specified		 Criteria Provided
Conflicting Classifications
 rs_756869400

3 SubmittersRCV001756612RCV002539878RCV003401672
NM_001082971.2(DDC):c.285C>A (p.Cys95Ter) SNV
Germline		 Chr7:50539945 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_748439275

1 SubmittersRCV001780918
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter) SNV
Germline		 Chr7:50470090 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts
 rs_777681757

2 SubmittersRCV003838905
NM_001082971.2(DDC):c.175G>A (p.Asp59Asn) SNV
Germline		 Chr7:50543911 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_931702374

1 SubmittersRCV001780920
NM_001082971.2(DDC):c.876+2T>G SNV
Germline		 Chr7:50499146 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_915727399

1 SubmittersRCV001998531
NM_001082971.2(DDC):c.526C>T (p.Gln176Ter) SNV
Germline		 Chr7:50529252 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_773004040

1 SubmittersRCV001871291
NM_001082971.2(DDC):c.201+5G>C SNV
Germline		 Chr7:50543880 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_2044715580

1 SubmittersRCV001896867
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg) SNV
Germline		 Chr7:50537934 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Conflicting Classifications
 rs_371117662

2 SubmittersRCV002035629
NM_001082971.2(DDC):c.82C>T (p.Gln28Ter) SNV
Germline		 Chr7:50544004 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_755511752

1 SubmittersRCV001880729
NM_001082971.2(DDC):c.568C>T (p.Gln190Ter) SNV
Germline		 Chr7:50529210 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_2153545926

1 SubmittersRCV001960034
NM_001082971.2(DDC):c.201+1G>C SNV
Germline		 Chr7:50543884 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_1450673278

1 SubmittersRCV002023837
NM_001082971.2(DDC):c.242C>T (p.Pro81Leu) SNV
Germline		 Chr7:50539988 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_935725316

1 SubmittersRCV002223079
NM_001082971.2(DDC):c.995A>G (p.Tyr332Cys) SNV
Germline		 Chr7:50479813 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter
 rs_2153536214

1 SubmittersRCV002243540
NM_001082971.2(DDC):c.68G>T (p.Gly23Val) SNV
Germline		 Chr7:50544018 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV002471920
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys) SNV
Germline		 Chr7:50463335 Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002471921
NM_001082971.2(DDC):c.1385G>C (p.Arg462Pro) SNV
Germline		 Chr7:50463289 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003037226
NM_001082971.2(DDC):c.665T>C (p.Leu222Pro) SNV
Germline		 Chr7:50528186 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003037228
NM_001082971.2(DDC):c.299G>C (p.Cys100Ser) SNV
Germline		 Chr7:50539931 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV002625673
NM_001082971.2(DDC):c.1107T>A (p.Tyr369Ter) SNV
Germline		 Chr7:50470106 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV002875726
NM_001082971.2(DDC):c.254C>A (p.Ser85Ter) SNV
Germline		 Chr7:50539976 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV002903483
NM_001082971.2(DDC):c.140C>A (p.Pro47His) SNV
Germline		 Chr7:50543946 Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003337943
NM_001082971.2(DDC):c.876+1G>T SNV
Germline		 Chr7:50499147 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003518173
NM_001082971.2(DDC):c.764T>A (p.Leu255Ter) SNV
Germline		 Chr7:50504010 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003516650
NM_001082971.2(DDC):c.1340G>A (p.Arg447His) SNV
Germline		 Chr7:50463334 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003518757
NM_001082971.2(DDC):c.323G>A (p.Ser108Asn) SNV
Germline		 Chr7:50537972 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003518759RCV004719350
NM_001082971.2(DDC):c.801G>A (p.Trp267Ter) SNV
Germline		 Chr7:50499223 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003516726
NM_001082971.2(DDC):c.362G>A (p.Trp121Ter) SNV
Germline		 Chr7:50537933 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003631931
NM_001082971.2(DDC):c.1022-1G>A SNV
Germline		 Chr7:50476644 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003632152
NM_001082971.2(DDC):c.1041+1G>A SNV
Germline		 Chr7:50476623 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003632575
NM_001082971.2(DDC):c.782-2A>T SNV
Germline		 Chr7:50499244 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV003824861
NM_001082971.2(DDC):c.367G>C (p.Gly123Arg) SNV
Germline		 Chr7:50537928 Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003860612RCV004767495
NM_001082971.2(DDC):c.139C>G (p.Pro47Ala) SNV
Germline		 Chr7:50543947 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase No Assertion Criteria Provided

1 SubmittersRCV004595867
NM_001082971.2(DDC):c.782G>T (p.Cys261Phe) SNV
Germline		 Chr7:50499242 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase No Assertion Criteria Provided

1 SubmittersRCV004595868
NM_001082971.2(DDC):c.1060G>A (p.Gly354Ser) SNV
Germline		 Chr7:50470153 Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase No Assertion Criteria Provided

1 SubmittersRCV004595869
NM_001082971.2(DDC):c.208C>T (p.His70Tyr) SNV
Germline		 Chr7:50540022 Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase Criteria Provided
Single Submitter

1 SubmittersRCV004800886