ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1046C>A (p.Ser349Ter)

dbSNP: rs62507279
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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 RCV001200004 SCV001370858 likely pathogenic Phenylketonuria 2020-04-13 reviewed by expert panel curation The c.1046C>A (p.Ser349Ter) variant in PAH is a null variant (nonsense variant) in exon 10 of 13 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 has previously been reported in one classic PKU case per the BioPKU database (PMID: 24939588), without additional information. Classification: Likely Pathogenic Supporting criteria: PVS1, PM2
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088722 SCV000119304 not provided not provided no assertion provided not provided

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