ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1374G>A (p.Leu458=)

gnomAD frequency: 0.00009  dbSNP: rs147264946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827192 SCV000968821 likely benign not provided 2018-05-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497883 SCV001083983 likely benign Pyruvate dehydrogenase E2 deficiency 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000827192 SCV005219608 likely benign not provided criteria provided, single submitter not provided

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