ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.946C>T (p.Arg316Ter)

gnomAD frequency: 0.00002  dbSNP: rs748682601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059731 SCV001224375 pathogenic Pyruvate dehydrogenase E3 deficiency 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg316*) in the DLD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DLD are known to be pathogenic (PMID: 8968745, 9934985). This variant is present in population databases (rs748682601, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with dihydrolipoamide dehydrogenase deficiency (PMID: 31683770). ClinVar contains an entry for this variant (Variation ID: 854640). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001059731 SCV004193976 pathogenic Pyruvate dehydrogenase E3 deficiency 2023-11-25 criteria provided, single submitter clinical testing

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