ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.719T>C (p.Phe240Ser)

dbSNP: rs62508594
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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 RCV002259590 SCV002540120 likely pathogenic Phenylketonuria 2020-11-09 reviewed by expert panel curation The c.719T>C (p.Phe240Ser) variant in PAH has been reported in 1 individual with classic PKU detected with pathogenic variant p.R261Q (PMID: 11139255). 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.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089053 SCV000119658 not provided not provided no assertion provided not provided

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