ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.793T>G (p.Cys265Gly)

dbSNP: rs62517181
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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 RCV002259596 SCV002540155 uncertain significance Phenylketonuria 2022-03-13 reviewed by expert panel curation The c.793T>G (p.Cys265Gly) variant in PAH has not been reported in the literature to our knowledge. Reference in BioPKU/PAHdb does not include a case report for this variant (PMID:9781015). This variant is absent from ExAC, gnomAD, 1000G, and ESP. Multiple lines of computational evidence support a deleterious effect (REVEL=0.822). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089094 SCV000119701 not provided not provided no assertion provided not provided

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