ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310124 SCV002604883 likely pathogenic Pyruvate dehydrogenase E3 deficiency 2021-12-17 criteria provided, single submitter clinical testing NM_000108.3(DLD):c.491_492ins13(T165Yfs*8) is expected to be pathogenic in the context of dihydrolipoamide dehydrogenase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DLD, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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