ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.848_849del (p.Asp283fs)

dbSNP: rs782704553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500244 SCV000594374 likely pathogenic Pyruvate dehydrogenase E2 deficiency 2016-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000500244 SCV002176688 pathogenic Pyruvate dehydrogenase E2 deficiency 2023-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp283Glyfs*22) 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 (rs782704553, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DLAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 434944). For these reasons, this variant has been classified as Pathogenic.

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