ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.291+1_418+1dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000735827 SCV000786648 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2018-08-27 no assertion criteria provided clinical testing The observed variant g.11219_12516dup, is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2.

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