ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.128C>T (p.Ala43Val)

gnomAD frequency: 0.32827  dbSNP: rs2303436
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510014 SCV001716939 benign Pyruvate dehydrogenase E2 deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676203 SCV001753994 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510014 SCV001876764 benign Pyruvate dehydrogenase E2 deficiency 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676203 SCV005231577 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116877 SCV000150962 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 RCV000676203 SCV000801956 benign not provided 2016-02-15 no assertion criteria provided clinical testing

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