ClinVar Miner

Submissions for variant NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) (rs1064796807)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486323 SCV000573902 likely pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing The W45X variant in the PDHX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W45X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret W45X as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000762841 SCV000893200 likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency 2018-10-31 criteria provided, single submitter clinical testing

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