ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.682G>T (p.Glu228Ter)

dbSNP: rs281865444
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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 RCV001269044 SCV001448235 pathogenic Phenylketonuria 2020-10-30 reviewed by expert panel curation The nonsense variant c.682G>T (p.Glu228Ter) generates a stop codon in exon 6 of 13 and is predicted to undergo NMD. The variant is absent from population databases, including gnomAD. It has been reported in at least one compound heterozygous patient with classical PKU (PMID: 24401910), in trans with VUS variant Val190Gly. In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

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