ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.362del (p.Asp121fs)

dbSNP: rs2116219533
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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 RCV001941805 SCV002230079 pathogenic Pyruvate dehydrogenase E3 deficiency 2021-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp121Alafs*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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DLD-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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