ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1396G>T (p.Glu466Ter)

dbSNP: rs2116277809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384807 SCV001584457 pathogenic Pyruvate dehydrogenase E3 deficiency 2021-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu466*) in the DLD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DLD-related conditions. Loss-of-function variants in DLD are known to be pathogenic (PMID: 8968745, 9934985). For these reasons, this variant has been classified as Pathogenic.

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