Submissions for variant NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser)

gnomAD frequency: 0.00949  dbSNP: rs139321130

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193545	SCV000247144	likely benign	not specified	2015-06-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084317	SCV000429403	benign	D-2-hydroxyglutaric aciduria 1	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514436	SCV000610678	likely benign	not provided	2017-03-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084317	SCV001113667	benign	D-2-hydroxyglutaric aciduria 1	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514436	SCV002544240	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	D2HGDH: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514436	SCV005261985	likely benign	not provided		criteria provided, single submitter	not provided