Submissions for variant NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)

gnomAD frequency: 0.00016  dbSNP: rs200450773

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001443515	SCV001646488	likely benign	Deficiency of aromatic-L-amino-acid decarboxylase	2024-11-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002559306	SCV003552755	likely benign	Inborn genetic diseases	2022-05-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001527605	SCV001738715	uncertain significance	Global developmental delay	2020-01-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920954	SCV004736518	likely benign	DDC-related disorder	2019-05-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).