ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1006C>T (p.Gln336Ter)

dbSNP: rs62516061
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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 RCV002259580 SCV002540140 pathogenic Phenylketonuria 2022-06-12 reviewed by expert panel curation The c.1006C>T (p.Gln336Ter) nonsense variant occurs in exon 10 of 13 and is predicted to result in NMD. It absent from population databases, including gnomAD. It has been reported in at least one patient with cPKU (PMID: 23764561), compound heterozygous with R408W (ClinVar 577 Pathogenic, reviewed by PAH VCEP). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3_supporting, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088696 SCV000119276 not provided not provided no assertion provided not provided

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