ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.1019T>A (p.Leu340His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004765395 SCV005374718 uncertain significance Pyruvate dehydrogenase E3-binding protein deficiency criteria provided, single submitter clinical testing In silico analysis tools (CADD_phred, REVEL, MutationTaster) are consistent in predicting the variant as damaging to PDHX protein function.

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