ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.452A>G (p.Asp151Gly)

dbSNP: rs199475625
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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 RCV004821976 SCV005442779 likely pathogenic Phenylketonuria 2024-11-17 reviewed by expert panel curation The c.452A>G (p.Asp151Gly) variant in PAH is reported in a Spanish patient with phenylketonuria (PMID: 8981952); the second allele/genotype was not reported. It is absent from gnomAD. Multiple lines of computational evidence support a deleterious effect (REVEL=0.98). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2_supporting, PP3_strong, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088931 SCV000119531 not provided not provided no assertion provided not provided

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