ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)

gnomAD frequency: 0.32172  dbSNP: rs10891314
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510015 SCV001716940 benign Pyruvate dehydrogenase E2 deficiency 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510015 SCV001876767 benign Pyruvate dehydrogenase E2 deficiency 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000676209 SCV001946923 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30389748)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000116878 SCV002051449 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676209 SCV005219597 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116878 SCV000150963 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000676209 SCV000801962 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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