ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1463del (p.Pro488fs)

dbSNP: rs1554400720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674332 SCV000799654 uncertain significance Pyruvate dehydrogenase E3 deficiency 2018-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674332 SCV002283051 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2020-11-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg495 amino acid residue in DLD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21930696, 8968745). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with DLD-related conditions. ClinVar contains an entry for this variant (Variation ID: 558106). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the DLD gene (p.Pro488Argfs*60). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the DLD protein and extend the protein by 37 additional amino acid residues.

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