ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.673C>G (p.Pro225Ala)

dbSNP: rs199475589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001543660 SCV001762342 likely pathogenic Phenylketonuria 2021-02-14 reviewed by expert panel curation The c.673C>G (p.Pro225Ala) variant in PAH has been reported in 1 individual with classic PKU (BH4 deficiency excluded, PMID: 29499199). This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. Another missense change at the same amino acid, p.Pro225Thr, is interpreted as pathogenic by multiple submitters in ClinVar (variation ID 102779). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM5, PP3.
Baylor Genetics RCV001543660 SCV004209670 likely pathogenic Phenylketonuria 2023-05-14 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089031 SCV000119636 not provided not provided no assertion provided not provided

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