ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)

gnomAD frequency: 0.04510  dbSNP: rs11553595
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124685 SCV000168119 benign not specified 2012-05-01 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001507 SCV001158810 benign Pyruvate dehydrogenase E2 deficiency 2023-11-06 criteria provided, single submitter clinical testing
Invitae RCV001001507 SCV001717469 benign Pyruvate dehydrogenase E2 deficiency 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001001507 SCV001876765 benign Pyruvate dehydrogenase E2 deficiency 2021-07-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676206 SCV000801959 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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