ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)

gnomAD frequency: 0.00001  dbSNP: rs781991355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002633576 SCV003515329 pathogenic Pyruvate dehydrogenase E2 deficiency 2022-12-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This premature translational stop signal has been observed in individual(s) with pyruvate dehydrogenase E2 deficiency (PMID: 20022530). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs781991355, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu138*) in the DLAT gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DLAT cause disease.

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