ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1007A>G (p.Gln336Arg)

dbSNP: rs62508735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001543647 SCV001762324 likely pathogenic Phenylketonuria 2024-09-06 reviewed by expert panel curation The c.1007A>G (p.Gln336Arg) variant in PAH has been reported in a Chinese patient with classical PKU, BH4 deficiency not assessed. It was detected with pathogenic variant p.R243Q, parental analysis not reported (PMID: 16256386). This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.958. In summary, this variant meets criteria to be classified as Likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2_supporting, PP3_strong, PP4, PM3_supporting.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088697 SCV000119277 not provided not provided no assertion provided not provided

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