ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)

gnomAD frequency: 0.00129  dbSNP: rs144235197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907218 SCV001051908 likely benign Pyruvate dehydrogenase E2 deficiency 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001660588 SCV001881453 likely benign not provided 2021-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977872 SCV004787040 likely benign DLAT-related condition 2022-02-09 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).

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