Submissions for variant NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)

gnomAD frequency: 0.00633  dbSNP: rs146578303

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145791	SCV000192928	likely benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987080	SCV000429412	likely benign	D-2-hydroxyglutaric aciduria 1	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000444247	SCV000510958	likely benign	not provided	2016-07-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000145791	SCV000864338	likely benign	not specified	2017-07-17	criteria provided, single submitter	clinical testing	BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000987080	SCV001107582	benign	D-2-hydroxyglutaric aciduria 1	2024-01-18	criteria provided, single submitter	clinical testing
Mendelics	RCV000987080	SCV001136278	benign	D-2-hydroxyglutaric aciduria 1	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000444247	SCV001153393	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	D2HGDH: BS2
PreventionGenetics, part of Exact Sciences	RCV003917442	SCV004737297	benign	D2HGDH-related disorder	2019-04-15	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Mayo Clinic Laboratories, Mayo Clinic	RCV000444247	SCV000802845	uncertain significance	not provided	2016-02-23	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000444247	SCV001931583	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000444247	SCV001966728	likely benign	not provided		no assertion criteria provided	clinical testing