ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003603997 SCV004552376 pathogenic Pyruvate dehydrogenase E2 deficiency 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln190*) in the DLAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DLAT are known to be pathogenic (PMID: 20022530, 23021068). This variant is present in population databases (rs782225633, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. For these reasons, this variant has been classified as Pathogenic.

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