ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1115C>G (p.Thr372Arg)

dbSNP: rs2136635740
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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 RCV001789816 SCV002032201 likely pathogenic Phenylketonuria 2020-08-10 reviewed by expert panel curation The c.1115C>G (p.Thr372Arg) variant in PAH has been reported in 3 individuals with classic PKU (BH4 deficiency excluded, PMID: 26503515) detected in trans with pathogenic variants: p.R176* (2 patients) and p.R408W (PMID: 30050108). This variant is absent in population databases. Computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong, PP3.

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