ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1249T>C (p.Tyr417His) (rs62644471)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000088817 SCV000617698 pathogenic not provided 2017-07-21 criteria provided, single submitter clinical testing The Y417H variant has previously been reported in association with mild PKU (Muntau et al., 2002). The Y417H variant is located in the dimerization motif of the oligomerizationdomain of the PAH enzyme and is associated with disturbed oligomerization and impaired tetramer assembly (Gersting et al., 2008). Functional analysis also found that Y417H is associated with significant residual enzyme activity and is classified as a BH4-responsive variant (Gersting et al., 2008; Staudigl et al., 2011).
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088817 SCV000119408 not provided not provided no assertion provided not provided

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