ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.82dup (p.Ser28fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466192 SCV004193953 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2023-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003466192 SCV004524512 pathogenic Pyruvate dehydrogenase E3 deficiency 2023-09-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser28Phefs*14) 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 (rs764704217, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DLD-related conditions. For these reasons, this variant has been classified as Pathogenic.

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