ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.903G>T (p.Gln301His)

dbSNP: rs1592952179
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000993643 SCV001146775 likely pathogenic Phenylketonuria 2019-08-02 reviewed by expert panel curation The c.903G>T (p.Gln301His) variant in PAH has been reported in at least 1 individual with PKU however without indication of the genotype (BH4 deficiency ruled out) (PMID: 21307867) . The p.Gln301His variant is absent in gnomAD and the ESP population databases. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.831. This variant is located in the C-terminal aromatic amino acid hydroxylase domain and a different amino acid change at the same codon has been reported (PMID: 19292873 ). Overall, the c.903G>T variant is classified as likely pathogenic. PAH-specific ACMG/AMP criteria applied: PP3, PM2, PP4_M, PM5.

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