ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1066-3C>G

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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 RCV002509873 SCV002818511 uncertain significance Phenylketonuria 2022-07-30 reviewed by expert panel curation The c.1066-3C>G variant in PAH has been reported in a Korean patient with PKU (BH4 deficiency excluded, PMID: 15503242). This variant is absent from 1000G, ESP, ExAC and gnomAD. Multiple lines of computational evidence support a deleterious splicing effect (HSF, MaxENT). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.

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