ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1027T>A (p.Tyr343Asn)

dbSNP: rs62508651
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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 RCV001199981 SCV001370808 likely pathogenic Phenylketonuria 2020-06-18 reviewed by expert panel curation The c.1027T>A (p.Tyr343Asn) variant in PAH has been reported in multiple individuals with PKU (PMID: 10356314) detected with pathogenic variants p.R158Q and p.E280K. This variant is absent in population databases. Computational evidence supports a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4.

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