ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)

dbSNP: rs1555179247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518970 SCV000621543 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003333076 SCV004041338 uncertain significance Pyruvate dehydrogenase E2 deficiency 2023-01-31 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003333076 SCV004812025 uncertain significance Pyruvate dehydrogenase E2 deficiency 2023-12-15 no assertion criteria provided clinical testing

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