ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)

dbSNP: rs747810875
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479643 SCV000570256 likely pathogenic not provided 2016-05-05 criteria provided, single submitter clinical testing The Y35X variant in the DLD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y35X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y35X variant is a strong candidate for a pathogenic variant; however, the possibility it may be a rare benign variant cannot be excluded.
Revvity Omics, Revvity RCV000984255 SCV003828929 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2022-12-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000984255 SCV004193974 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2023-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000984255 SCV004530507 pathogenic Pyruvate dehydrogenase E3 deficiency 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr35*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dihydrolipoamide dehydrogenase deficiency (PMID: 8968745). ClinVar contains an entry for this variant (Variation ID: 421142). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984255 SCV001132379 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2014-07-28 no assertion criteria provided clinical testing

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