ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)

dbSNP: rs62508651
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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 RCV001200017 SCV001370882 likely pathogenic Phenylketonuria 2020-06-01 reviewed by expert panel curation The c.1027T>G (p.Tyr343Asp) variant in PAH has been reported in 1 individual with mild PKU (BH4 deficiency excluded) detected in trans with p.S349P (PMID: 27121329). 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: PP4_Moderate, PM2, PM3, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088707 SCV000119287 not provided not provided no assertion provided not provided

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