ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.833C>G (p.Thr278Ser)

dbSNP: rs62507262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001199979 SCV001370806 likely pathogenic Phenylketonuria 2020-06-15 reviewed by expert panel curation The c.833C>G (p.Thr278Ser) variant in PAH has been reported in 1 individual with mild PKU (BH4 deficiency excluded), detected with pathogenic variant IVS4-1G>A (PMID: 15503242). This variant is absent in population databases. Computational evidence is conflicting. There is another missense variant at the same amino acid that is interpreted as pathogenic (p.T278I, Variant ID:102863). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_supporting, PM5.

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