ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.803_804del (p.Gln268fs)

gnomAD frequency: 0.00001  dbSNP: rs764611160
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482561 SCV000574055 pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The c.803_804delAG variant in the DLD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.803_804delAG variant causes a frameshift starting with codon Glutamine 268, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Gln268ArgfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.803_804delAG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.803_804delAG as a pathogenic variant.
Invitae RCV000984256 SCV001587297 pathogenic Pyruvate dehydrogenase E3 deficiency 2022-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln268Argfs*3) 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 (rs764611160, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with DLD-related conditions (PMID: 33092611). ClinVar contains an entry for this variant (Variation ID: 424264). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000984256 SCV003828907 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2022-04-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000984256 SCV004193966 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2023-07-27 criteria provided, single submitter clinical testing
Counsyl RCV000984256 SCV001132380 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2015-03-15 no assertion criteria provided clinical testing

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