ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.594T>G (p.Tyr198Ter)

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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 RCV003479532 SCV004222618 pathogenic Phenylketonuria 2023-10-13 reviewed by expert panel curation The c.594T>G (p.Tyr198Ter) is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon 6/13 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism. It has been detected in a patient with PAH deficiency with second allele not reported (PMID: 21307867). This variant is absent in population databases. In summary, this variant meets criteria to be classified as Pathogenic for PAH deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen PAH VCEP: PM2, PP4_moderate, PVS1.

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