ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.111dup (p.Ile38fs)

dbSNP: rs199475674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000993603 SCV001146694 pathogenic Phenylketonuria 2019-04-03 reviewed by expert panel curation The c.112dupG variant in PAH has been previously reported as a single variant (no second mutation detected) in 1 Chinese patient with classic PKU (PMID: 16256386); BH4 deficiency was not excluded (PP4). The variant is a frameshift variant occurring in exon 2 of 13 in the in the canonical transcript of PAH, a gene fulfilling the most recent criteria for LOF being a known disease mechanism (see PMID: 30192042) (PVS1). It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PP4, PM2.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088764 SCV000119348 not provided not provided no assertion provided not provided

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