ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)

gnomAD frequency: 0.00021  dbSNP: rs149088081
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000609986 SCV000745137 likely benign Pyruvate dehydrogenase E2 deficiency 2017-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000609986 SCV003269170 likely benign Pyruvate dehydrogenase E2 deficiency 2024-08-04 criteria provided, single submitter clinical testing
GeneDx RCV003327393 SCV004034721 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609986 SCV000732998 likely benign Pyruvate dehydrogenase E2 deficiency no assertion criteria provided clinical testing

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