ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.667A>T (p.Asn223Tyr)

dbSNP: rs2136649290
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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 RCV002260492 SCV002540134 uncertain significance Phenylketonuria 2021-01-15 reviewed by expert panel curation This c.667A>T (p.Asn223Tyr) variant in PAH was reported with pathogenic variant c.165delT in a patient with PAH deficiency (242 μmol/L Phe) (PMID 18346471). Computational evidence for this missense variant is predicted to be damaging (SIFT), probably damaging (PolyPhen2), and disease causing (MutationTaster). This variant is absent from population databases ExAC, gnomAD, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4, PM3_supporting.

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