ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.676C>T (p.Gln226Ter)

dbSNP: rs62508696
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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 RCV001200001 SCV001370853 likely pathogenic Phenylketonuria 2020-04-05 reviewed by expert panel curation The c.676C>T (p.Gln226Ter) variant in PAH is a null variant (nonsense variant) in a gene where LOF is a known mechanism of disease, leading to premature truncation and NMD (PVS1). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). It does not appear to have been reported in detail in the published literature, but has been noted in the BioPKU database (PMID: 24939588) and in Clinvar (Variation ID 102782), without further case-level information. Classification: Likely Pathogenic Supporting Criteria: PVS1, PM2
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089033 SCV000119638 not provided not provided no assertion provided not provided

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