ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) (rs146578303)

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Total submissions: 8
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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 Clinical Services Laboratory,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).
Invitae RCV000987080 SCV001107582 benign D-2-hydroxyglutaric aciduria 1 2019-12-31 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 Praxis fuer Humangenetik Tuebingen RCV000444247 SCV001153393 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000444247 SCV000802845 uncertain significance not provided 2016-02-23 no assertion criteria provided clinical testing

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