Submissions for variant NM_001082971.2(DDC):c.649A>G (p.Met217Val)

gnomAD frequency: 0.03032  dbSNP: rs6263

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000386312	SCV000469597	benign	Deficiency of aromatic-L-amino-acid decarboxylase	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000386312	SCV001728216	benign	Deficiency of aromatic-L-amino-acid decarboxylase	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001573990	SCV001851514	benign	not provided	2021-04-15	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573990	SCV001800651	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700092	SCV001920290	benign	not specified		no assertion criteria provided	clinical testing