Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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 |