Submissions for variant NM_000031.6(ALAD):c.168T>C (p.Tyr56=)

gnomAD frequency: 0.35967  dbSNP: rs1139488

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000390608	SCV000476685	benign	Porphobilinogen synthase deficiency	2018-01-12	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	RCV001517936	SCV001726544	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001517936	SCV001909028	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000390608	SCV000734630	benign	Porphobilinogen synthase deficiency		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700362	SCV001920714	benign	not specified		no assertion criteria provided	clinical testing