ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.734_735inv (p.Val245Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186078 SCV000239101 pathogenic not provided 2014-09-22 criteria provided, single submitter clinical testing This variant is denoted c.734_735delinsCA, p.Val245Ala(V245A) on the protien level, the normal surrounding sequence with the deletions and insertion in brackets is: CCTG{delTG}{insCA}GCTG. The V245A missense mutation in the PAH gene has been reported as a pathogenic mutation in the PAH Consortium database. This mutation has previously been associated with hyperphenylalaninemia and residual phenylalanine hydroxylase activity in in vivo functional assays (Guldberg et al., 1994; Heintz et al., 2013). The variant is found in PAH panel(s).

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