ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1200G>T (p.Arg400Ser)

gnomAD frequency: 0.00001  dbSNP: rs1874549626
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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 RCV001269313 SCV001448663 likely pathogenic Phenylketonuria 2020-07-24 reviewed by expert panel curation The c.1200G>T (p.Arg400Ser) variant in PAH has been reported in 2 Chinese patients, type of PKU not determined, serum Phe at least 120umol/L; BH4 deficiency excluded (PMID: 23932990; PP4_Moderate). This variant is at the same codon as c.1199G>C (p.R400T) - curated as Pathogenic by ClinGen PAH VCEP; c.1198del (p.Arg400fs) - reported as Pathogenic in ClinVar (VarID:102554); and c.1198A>C (p.Arg400=) - curated as VUS by ClinGen PAH VCEP (PM5). This variant is absent from population databases (PM2) and is predicted deleterious by SIFT, PolyPhen2, Mutation Taster, and REVEL = 0.901 (PP3). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PP4_Moderate, PP3.

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