ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.804C>A (p.Tyr268Ter)

dbSNP: rs748337823
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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 RCV001269081 SCV001448307 pathogenic Phenylketonuria 2020-10-15 reviewed by expert panel curation This c.804C>A (p.Tyr268Ter) variant in PAH was observed in a patient with classical PKU detected with pathogenic variant p.Arg243Gln (PMID: 28982351). This variant is absent from controls in population databases. This is a nonsense variant in exon 7 out of 13 coding exons. The variant is predicted to undergo nonsense mediated mRNA decay (NMD). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM3, PM2, and PP4.
Neuberg Centre For Genomic Medicine, NCGM RCV001269081 SCV002073218 pathogenic Phenylketonuria criteria provided, single submitter clinical testing The stop gained p.Y268* in PAH (NM_000277.3) has been classified as Pathogenic by the ClinGen expert curation panel. The p.Y268* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function. For these reasons, this variant has been classified as Pathogenic.

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