ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.754C>T (p.Leu252=)

gnomAD frequency: 0.00048  dbSNP: rs139194443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432572 SCV000526901 likely benign not specified 2016-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001496689 SCV001701398 likely benign Pyruvate dehydrogenase E2 deficiency 2023-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392246 SCV004133306 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing DLAT: BP4, BP7

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