Submissions for variant NM_001082971.2(DDC):c.822C>T (p.Tyr274=)

gnomAD frequency: 0.00004  dbSNP: rs746729797

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001163811	SCV001325888	uncertain significance	Deficiency of aromatic-L-amino-acid decarboxylase	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001163811	SCV001688153	likely benign	Deficiency of aromatic-L-amino-acid decarboxylase	2023-12-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003425969	SCV004162123	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	DDC: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003953551	SCV004772971	likely benign	DDC-related disorder	2020-01-30	criteria provided, single submitter	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).