Submissions for variant NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)

gnomAD frequency: 0.25945  dbSNP: rs1106639

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145785	SCV000192922	likely benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345949	SCV000429402	benign	D-2-hydroxyglutaric aciduria 1	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	RCV000345949	SCV001731363	benign	D-2-hydroxyglutaric aciduria 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000677009	SCV001869433	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000345949	SCV001876518	benign	D-2-hydroxyglutaric aciduria 1	2021-07-30	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000677009	SCV000802840	benign	not provided	2016-02-15	no assertion criteria provided	clinical testing