ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.975G>A (p.Pro325=)

gnomAD frequency: 0.00001  dbSNP: rs1432866316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001844333 SCV005016555 likely pathogenic Pyruvate dehydrogenase E2 deficiency 2024-03-14 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001844333 SCV001870455 pathogenic Pyruvate dehydrogenase E2 deficiency 2021-04-29 no assertion criteria provided research

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