ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.941del (p.Pro314fs)

dbSNP: rs62642907
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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 RCV002259597 SCV002540138 pathogenic Phenylketonuria 2022-06-12 reviewed by expert panel curation The frameshift variant c.941del (HGVS nomenclature c.940del) occurs in exon 9 of 13 and is predicted to result in NMD. The variant is absent from population databases, including gnomAD. One classical PKU patient has been reported (PMID: 9600453) with this variant in trans with c.1066-11G>A (ClinVar 607, Pathogenic with expert panel review). In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3, PP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089170 SCV000119785 not provided not provided no assertion provided not provided

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