ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.197_204del (p.Glu66fs)

dbSNP: rs2136702049
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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 RCV002260503 SCV002540166 pathogenic Phenylketonuria 2022-06-28 reviewed by expert panel curation The c.197_204del8 (p.Glu66Alafs*8) variant in PAH has been reported in 1 individual with PAH deficiency (BH4 deficiency excluded, PP4_Moderate; PMID: 21147011). This variant was detected with p.A300S (Pathogenic in ClinVar) (PM3_supporting; PMID: 21147011). It is a frameshift variant predicted to lead to NMD (PVS1). It is absent from gnomAD (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PP4_Moderate, PM3, PM2.

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