ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.175G>T (p.Asp59Tyr)

dbSNP: rs199475635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV002259585 SCV002540167 uncertain significance Phenylketonuria 2021-02-14 reviewed by expert panel curation The c.175G>T (p.Asp59Tyr) variant in PAH has been reported in 1 individual with mild hyperphenylalaninaemia (BH4 deficiency excluded). (PP4_Moderate; PMID: 10234516). This variant has is absent in population databases. This variant was detected with A403V (Pathogenic in ClinVar) (PM3_supporting; PMID: 10234516). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_supporting.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088857 SCV000119452 not provided not provided no assertion provided not provided

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