ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)

gnomAD frequency: 0.00071  dbSNP: rs143460342
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501644 SCV000594306 uncertain significance not specified 2016-07-29 criteria provided, single submitter clinical testing
Invitae RCV001426967 SCV001629637 likely benign D-2-hydroxyglutaric aciduria 1 2023-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915370 SCV004729601 likely benign D2HGDH-related condition 2022-10-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
New York Genome Center RCV001255067 SCV001431158 uncertain significance Seizure 2020-01-27 no assertion criteria provided clinical testing

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