ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.901C>A (p.Gln301Lys) (rs1057520732)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436688 SCV000517209 pathogenic not provided 2015-05-13 criteria provided, single submitter clinical testing The Q301K substitution has not been published as a pathogenic variant, nor has it beenreported as a benign polymorphism to our knowledge. Q301K was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. TheQ301K substitution occurs at a position that is conserved across species, in silico analysis predicts thisvariant is probably damaging to the protein structure/function, and missense variants at the same position(Q301P, Q301H) and in nearby residues (P292L/M, L293S, D296G, R297C/L/H, F299C, A300S/V,S303A/P, Q304R, I306V, G307D, L308F/V, A309D/V, S310Y/F, L311P) have been reported in theHuman Gene Mutation Database in association with phenylketonuria/ hyperphenylalaninemia (Stenson etal., 2014), supporting the functional importance of this region of the protein. Therefore, we interpretQ301K to be a pathogenic variant.

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