ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.730C>T (p.Pro244Ser)

dbSNP: rs2136646392
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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 RCV001789819 SCV002032204 likely pathogenic Phenylketonuria 2020-08-07 reviewed by expert panel curation The c.730C>T (p.Pro244Ser) variant in PAH has been reported in 1 individual with classic PKU, detected in trans with pathogenic variant p.R158Q (PMID: 26542770). 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: PP4, PM2, PM3, PP3.

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